Varaico: Literature-Extracted Genetic Variants

Gene:H4C12
Variant:p.R40C
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H4C12

NM_003541.3:p.R40C

Associated Papers

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Tessadori F et al.

American Journal of Human Genetics, 2022

35202563 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Tessadori F et al.

Nature Genetics, 2017

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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."