Varaico: Literature-Extracted Genetic Variants

Gene:CHRND
Variant:p.N76D
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CHRND

NM_000751.3:p.N76D

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_vs_Alamut_and_EVE_Results.xlsx › Sheet1
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