Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.T4271fs
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KMT2D

NM_003482.4:p.T4271fs

Associated Papers

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Huang Z et al.

Kidney International Reports, 2023

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

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."