Varaico: Literature-Extracted Genetic Variants

Gene:HCRT
Variant:p.T6delFs
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HCRT

NM_001524.1:p.T6delFs

Associated Papers

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

AlAbdi L et al.

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

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Hakami W et al.

Neurogenetics, 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

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
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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."