Varaico: Literature-Extracted Genetic Variants

Gene:PRMT7
Variant:p.F493S
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PRMT7

NM_019023.5:p.F493S

Associated Papers

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Poquérusse J et al.

Jimd Reports, 2023

37151360 (PubMed )
Supplement: JMD2-64-223-s001.docx
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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."