Varaico: Literature-Extracted Genetic Variants

Gene:SGCA
Variant:p.L249P
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SGCA

NM_000023.4:p.L249P

Associated Papers

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Cerino M et al.

Genes, 2022

35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM et al.

Muscle & Nerve, 2016

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