Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G101delFs
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KMT2D

NM_003482.4:p.G101delFs

Associated Papers

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

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.

Bang S et al.

Cancers, 2023

37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S1_Patient_demographics.xlsx › Sheet1

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

Shah SS et al.

American Journal of Medical Genetics. Part A, 2023

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