Varaico: Literature-Extracted Genetic Variants

Gene:H4C3
Variant:p.K92R
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H4C3

NM_003542.4:p.K92R

Associated Papers

Altered chromatin occupancy of patient-associated H4 mutants misregulate neuronal differentiation.

Feng L et al.

Biorxiv : the Preprint Server for Biology, 2023

Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.

Lubin E et al.

Human Genetics, 2022

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.

Tessadori F et al.

European Journal of Human Genetics : Ejhg, 2020

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."