Varaico: Literature-Extracted Genetic Variants

Gene:ANO1
Variant:p.R77Q
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ANO1

NM_018043.7:p.R77Q

Associated Papers

Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.

Wang Y et al.

Npj Genomic Medicine, 2026

41605952 (PubMed )
Supplement: 41525_2025_539_MOESM1_ESM.pdf

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Pinard A et al.

Brain : a Journal of Neurology, 2023

Correction to: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Unknown Author

Brain : a Journal of Neurology, 2023

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