Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.
• NP671214.RAahRZT5_JxKD7Q86d_juWNfAiyagtp2GDZShm-wdYbM8130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP671214.RAahRZT5_JxKD7Q86d_juWNfAiyagtp2GDZShm-wdYbM8130_provenance.
• NP850877.RA-v0gliakiZQEsy_ZU4MZx84LHq2E-HrSVVZ6FSS0xDc130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP850877.RA-v0gliakiZQEsy_ZU4MZx84LHq2E-HrSVVZ6FSS0xDc130_provenance.
• assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP298861.RA_b1rMMhtLaMlvNVk5q_MmdLzibP9W5bHe4Lc1CEy6mc130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298861.RA_b1rMMhtLaMlvNVk5q_MmdLzibP9W5bHe4Lc1CEy6mc130_provenance.
• NP401205.RAL8hWbAy_Cd1r4PcorZmIy1owIOa4xA4odV5ooCOfV0g130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401205.RAL8hWbAy_Cd1r4PcorZmIy1owIOa4xA4odV5ooCOfV0g130_provenance.
• NP401283.RAku3wEn7Ao3wyL7Bj0c0BYth6RBJcuMTZoaniKNI8iCI130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401283.RAku3wEn7Ao3wyL7Bj0c0BYth6RBJcuMTZoaniKNI8iCI130_provenance.
• NP298857.RAKfXYs2Y6Y8oGfnazXWrCk-zYTIH40x5UNkeyVYQ3_uQ130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298857.RAKfXYs2Y6Y8oGfnazXWrCk-zYTIH40x5UNkeyVYQ3_uQ130_provenance.
• NP298859.RAthIKQzAMShpHkqclnx4MJSXvoPlLZkv8XQGh_s54rhU130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298859.RAthIKQzAMShpHkqclnx4MJSXvoPlLZkv8XQGh_s54rhU130_provenance.