Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP784221.RA-XqltEn0nbqKotcCixOj9KF8THPo46K1zjmRAX5WDyA130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP784221.RA-XqltEn0nbqKotcCixOj9KF8THPo46K1zjmRAX5WDyA130_provenance.
• NP1212721.RAyseMY7RPWVqlLxZNYiH5UP0z1fnOJ7Od74x16SrwQ0U130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1212721.RAyseMY7RPWVqlLxZNYiH5UP0z1fnOJ7Od74x16SrwQ0U130_provenance.
• NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
• assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1212726.RAhruWdmBF1QZ37fFxBN7c5kLai6OOhIRfgPjW7vqEWHU130_provenance.