Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.Q866*
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HIRA

NM_003325.4:p.Q866*

Associated Papers

De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Maslennikov D et al.

Clinical Genetics, 2024

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Jeanne M et al.

Human Genetics, 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."