Varaico: Literature-Extracted Genetic Variants

Gene:CT47B1
Variant:p.A109V
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CT47B1

NM_001145718.3:p.A109V

Associated Papers

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Yang F et al.

American Journal of Human Genetics, 2024

38744284 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc3.xlsx › A__Coding_mutations_IBD
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