Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S4312F
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KMT2D

NM_003482.4:p.S4312F

Associated Papers

Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.

Ko YL et al.

Bmc Endocrine Disorders, 2023

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Aref-Eshghi E et al.

Human Mutation, 2019

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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."