Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.R373*
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PYHIN1

NM_152501.5:p.R373*

Associated Papers

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Bacchelli E et al.

Scientific Reports, 2020

32081867 (PubMed )
Supplement: 41598_2020_59922_MOESM2_ESM.xlsx › Table_S6

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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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."