Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.R339W
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MOCS1

NM_001358530.2:p.R339W

Associated Papers

Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Ouarhache M et al.

Journal of Clinical Immunology, 2021

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › misCADDover15
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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."