Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4200*
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KMT2D

NM_003482.4:p.Q4200*

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

Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

Pilsworth JA et al.

The Journal of Pathology. Clinical Research, 2021

33428330 (PubMed )
Supplement: CJP2-7-243-s002.xlsx › Table_S2

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Porkka NK et al.

Oncotarget, 2020

32292574 (PubMed )
Supplement: oncotarget-11-1244-s005.xlsx › Sheet1

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N et al.

Human Mutation, 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."