Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) varian...
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change. However, the pathogenic role of this allele has been questioned since it was found in homozygosity in two health...
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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
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TN_cdi_plos_journals_2056828169
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2056828169
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0199048
