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Haplotype Analysis of USH2A in Affected Siblings from Family 128

This study investigates the USH2A gene's haplotypes in Family 128, where affected siblings share specific haplotypes. A single heterozygous pathogenic variant was identified (c.7595-2144A>G, shown in red), while the second disease-causing allele remains unknown. The analysis includes polymorphic SNPs (Rs1805050, Rs2168924, Rs646094, Rs11120616, Rs2797235), highlighting the genetic landscape associated with their atypical Usher syndrome presentation. Understanding these variants may aid in better genetic counseling and potential therapeutic approaches.

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Haplotype Analysis of USH2A in Affected Siblings from Family 128

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  1. Additional file 5. USH2A haplotype analysis in family 128 Affected siblings share USH2A haplotypes. The single heterozygous pathogenic variant identified in this family is shown in red. The other disease causing allele in this family is unknown. The Rsvariants are polymorphic SNPs. Family 128 not available not available not available c.7595-2144A>G Rs1805050 Rs2168924 Rs646094 Rs11120616  Rs2797235 A C C T C G G T C G T A A C C T C G G T C G T A A C C T C G G T C G T A USH2A c.7595-2144A>G Rs1805050 Rs2168924 Rs646094 Rs11120616  Rs2797235 A C C T C G A C T T C G = Atypical Usher USH2A

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