Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.K14R
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HIRA

NM_003325.4:p.K14R

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

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

Maslennikov D et al.

Clinical Genetics, 2024

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 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."