Associated Papers
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S et al.
Molecular Genetics & Genomic Medicine, 2024
RARS1-related developmental and epileptic encephalopathy.
Wan L et al.
Epilepsia Open, 2023
37186453 (PubMed )
Supplement: EPI4-8-867-s001.docx
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M et al.
Plos One, 2018
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