Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.L23insFs
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ATXN3

NM_004993.6:p.L23insFs

Associated Papers

A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.

Kim D et al.

Current Issues in Molecular Biology, 2023

38132465 (PubMed )
Supplement: cimb-45-00619-s001.zip › cimb-2765337-supplementary.pdf
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