Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.L231M
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MMADHC

NM_015702.3:p.L231M

Associated Papers

Correlation of homologous recombination deficiency induced mutational signatures with sensitivity to PARP inhibitors and cytotoxic agents.

Póti Á et al.

Genome Biology, 2019

31727117 (PubMed )
Supplement: 13059_2019_1867_MOESM1_ESM.xlsx › Table_S11

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Lempp TJ et al.

Molecular Genetics and Metabolism, 2007

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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."