Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.P286_G287Splc
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COL6A1

NM_001848.3:p.P286_G287Splc

Associated Papers

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Segarra-Casas A et al.

Annals of Clinical and Translational Neurology, 2025

40413734 (PubMed )
Supplement: ACN3-12-1465-s001.xlsx › Table_S1
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