Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.Q417E
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MATR3

NM_018834.6:p.Q417E

Associated Papers

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.

Seaby EG et al.

Human Genetics, 2023

36477409 (PubMed )
Supplement: 439_2022_2509_MOESM2_ESM.xlsx › Sheet1
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