Varaico: Literature-Extracted Genetic Variants

Gene:PTPRU
Variant:p.R633Q
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PTPRU

NM_133178.4:p.R633Q

Associated Papers

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Shared_Rare_Variants_Filter

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Hebert L et al.

Plos One, 2020

32970752 (PubMed )
Supplement: pone.0239083.s007.xlsx › S7_Table

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."