Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.M1insFs
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KMT2C

NM_170606.3:p.M1insFs

Associated Papers

Developmental convergence and divergence in human stem cell models of autism.

Gordon A et al.

Nature, 2026

A Rare Case of a Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance and a Review of Literature.

Abdelhammed MH et al.

Dermatopathology (basel, Switzerland), 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Rots D et al.

American Journal of Human Genetics, 2024

Benign and Intermediate-grade Melanocytic Tumors With BRAF Mutations and Spitzoid Morphology: A Subset of Melanocytic Neoplasms Distinct From Melanoma.

Zhao J et al.

The American Journal of Surgical Pathology, 2022

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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."