Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.M5135V
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KMT2D

NM_003482.4:p.M5135V

Associated Papers

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Chen LS et al.

Genetics and Molecular Research : Gmr, 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."