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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRD5A3

Variant:p.Y170C

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SRD5A3

NM_024592.5:p.Y170C

hg38:chr4:55364218 A>G

Associated Papers

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Tawfik CA et al.

Ophthalmic Genetics, 2026

41667393 (PubMed )

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