Varaico: Literature-Extracted Genetic Variants

Gene:HCRT
Variant:p.L16R
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HCRT

NM_001524.1:p.L16R

Associated Papers

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Hakami W et al.

Neurogenetics, 2024

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region

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

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.

Han F et al.

Sleep, 2014

A common single nucleotide polymorphism alters the synthesis and secretion of neuropeptide Y.

Mitchell GC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity.

Thompson MD et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004

Neuropeptide gene polymorphisms and human behavioural disorders.

Inui A

Nature Reviews. Drug Discovery, 2003

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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."