Varaico: Literature-Extracted Genetic Variants

Gene:CIMIP5
Variant:p.F146L
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CIMIP5

NM_001371321.1:p.F146L

Associated Papers

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW et al.

Nature Communications, 2018

30283131 (PubMed )
Supplement: 41467_2018_6250_MOESM1_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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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."