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Abbreviation: V528D
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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
valine with an aspartic acid at codon 528
(1 time)
Genetics, Medical
(1 time)
EC (1 time)
2009 Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.