Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.D147fs
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KMT5B

NM_017635.5:p.D147fs

Associated Papers

Novel KMT5B De Novo Variants Disrupt DNA Damage Response in Intellectual Disability.

Hu X et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report.

Tong J et al.

Heliyon, 2024

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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."