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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FARSA

Variant:p.R475W

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FARSA

NM_004461.3:p.R475W

hg38:chr19:12922852 G>A

Associated Papers

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

40191063 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."