Varaico: Literature-Extracted Genetic Variants

Gene:H1-4
Variant:p.P131_A132insFs
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H1-4

NM_005321.3:p.P131_A132insFs

Associated Papers

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.

Indugula SR et al.

Clinical Case Reports, 2022

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.

Pelle A et al.

Clinical Dysmorphology, 2021

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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."