Associated Papers
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Setlere S et al.
Neurology. Genetics, 2022
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM et al.
Human Mutation, 2012
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