Varaico: Literature-Extracted Genetic Variants

Gene:FARSA
Variant:p.R295W
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FARSA

NM_004461.3:p.R295W

Associated Papers

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.

Guo R et al.

Bmc Medical Genomics, 2023

Fatal systemic disorder caused by biallelic variants in FARSA.

Kim SY et al.

Orphanet Journal of Rare Diseases, 2022

Systemic inflammatory syndrome in children with FARSA deficiency.

Charbit-Henrion F et al.

Clinical Genetics, 2022

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!

Schuch LA et al.

Clinical Genetics, 2021

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