Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R3656C
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KMT2D

NM_003482.4:p.R3656C

Associated Papers

Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.

Ul Haq S et al.

Jto Clinical and Research Reports, 2024

39564094 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.

Müller H et al.

Cancer Gene Therapy, 2022

35145272 (PubMed )
Supplement: 41417_2022_428_MOESM1_ESM.xlsx › 5k_data_set

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

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

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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."