Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.L372delFs
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MTFMT

NM_139242.4:p.L372delFs

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.

Oates A et al.

Pediatric Transplantation, 2016

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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."