Varaico: Literature-Extracted Genetic Variants

Gene:FARSA
Variant:p.P226L
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FARSA

NM_004461.3:p.P226L

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.

Aelvoet Y et al.

Jimd Reports, 2025

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