Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

Moran Gal, Erez Y. Levanon, Yasir Hujeirat, Morad Khayat, Jacob Pe'er, Stavit Shalev

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18 Scopus citations

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Biochemistry, Genetics and Molecular Biology