Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.V248I
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C9orf72

NM_018325.5:p.V248I

Associated Papers

Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing.

Oka A et al.

Heliyon, 2024

38644811 (PubMed )
Supplement: mmc2.pdf

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

31836585 (PubMed )
Supplement: supp_mcs.a003491_Supplemental_Table_1.xlsx › Probands_Summary
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