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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

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  1. Article

    Open Access

    IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

    Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, a...

    Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali… in npj Genomic Medicine (2023)

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