Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.M1T
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KMT2D

NM_003482.4:p.M1T

Associated Papers

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Ribeiro AC et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Liu Y et al.

Pediatric Nephrology (berlin, Germany), 2023

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

Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer.

Koshikawa N et al.

Scientific Reports, 2017

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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."