Varaico: Literature-Extracted Genetic Variants

Gene:GDF7
Variant:p.S113L
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GDF7

NM_182828.4:p.S113L

Associated Papers

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Treitel R et al.

American Journal of Medical Genetics. Part A, 2025

40344499 (PubMed )
Supplement: supplement_1.docx
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