Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.C5230fs
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KMT2D

NM_003482.4:p.C5230fs

Associated Papers

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Huang L et al.

Molecular Genetics and Genomics : Mgg, 2022

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.

Wang Y et al.

American Journal of Medical Genetics. Part A, 2020

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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."