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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNB2

Variant:p.I475V

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CHRNB2

NM_000748.3:p.I475V

hg38:chr1:154575846 A>G

Associated Papers

Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report.

Xu T et al.

Cureus, 2023

37033539 (PubMed )

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