Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.L23insFs
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ATXN3

NM_004993.6:p.L23insFs

Associated Papers

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Marinakis NM et al.

Clinical Genetics, 2026

40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Loges NT et al.

American Journal of Human Genetics, 2018

30471718 (PubMed )
Supplement: mmc1.pdf
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