Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.Q228H
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CHRNA1

NM_000079.4:p.Q228H

Associated Papers

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Ryan-Phillips F et al.

Biomedicines, 2024

39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › AlphaMissense_Results.xlsx › Sheet1
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