Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.M5135_H5136del2
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KMT2D

NM_003482.4:p.M5135_H5136del2

Associated Papers

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

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

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

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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."