Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4315*
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KMT2D

NM_003482.4:p.Q4315*

Associated Papers

Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

Cherkaoui I et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

The Diagnostic Utility of Cell-Free DNA from Ex Vivo Bronchoalveolar Lavage Fluid in Lung Cancer.

Otake S et al.

Cancers, 2022

35406535 (PubMed )
Supplement: cancers-14-01764-s001.zip › Supplementary_Table_S3.pdf
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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."