Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.C14_A15insFs
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ATXN3

NM_004993.6:p.C14_A15insFs

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

[The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing].

Prokofyeva DS et al.

Genetika, 2016

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