Varaico: Literature-Extracted Genetic Variants

Gene:FARSB
Variant:p.H496Fs
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FARSB

NM_005687.5:p.H496Fs

Associated Papers

Fatal systemic disorder caused by biallelic variants in FARSA.

Kim SY et al.

Orphanet Journal of Rare Diseases, 2022

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Antonellis A et al.

Human Mutation, 2018

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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."