Varaico: Literature-Extracted Genetic Variants

Gene:PER2
Variant:p.V1205M
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PER2

NM_022817.3:p.V1205M

Associated Papers

Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.

Hoang N et al.

American Journal of Medical Genetics. Part A, 2021

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population.

Miyagawa T et al.

Journal of Human Genetics, 2019

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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."