Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.R326Splc
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KMT5B

NM_017635.5:p.R326Splc

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
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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."