Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.Y185fs
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KMT5B

NM_017635.5:p.Y185fs

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

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Aksel Kilicarslan O et al.

Journal of Clinical Medicine, 2025

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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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."