Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.V27A
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FIG4

NM_014845.6:p.V27A

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Sharma R et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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