Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4387*
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KMT2D

NM_003482.4:p.Q4387*

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

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Morgan AT et al.

American Journal of Medical Genetics. Part A, 2015

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