Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2022
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings.
Karimzadeh P et al.
Clinical Case Reports, 2022
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
Zadjali F et al.
Human Mutation, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z et al.
American Journal of Human Genetics, 2018
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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