Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.A17P
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ACSF3

NM_001243279.3:p.A17P

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.

Wang C et al.

Nature Genetics, 2024

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Zhang R et al.

Italian Journal of Pediatrics, 2020

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