Matches in Nanopublications for { ?s ?p "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
- NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP638739.RAhALmAzGjcnAaVI8-PU6lQo5wE4CRQRu5-heAkHoRYYY130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.