Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.L40F
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EVC

NM_153717.3:p.L40F

Associated Papers

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Khan K et al.

American Journal of Medical Genetics. Part A, 2022

34697879 (PubMed )
Supplement: supplement_1.docx
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