Varaico: Literature-Extracted Genetic Variants

Gene:ASCC1
Variant:p.L158P
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ASCC1

NM_001198800.3:p.L158P

Associated Papers

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Civit A et al.

American Journal of Medical Genetics. Part A, 2025

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