Varaico: Literature-Extracted Genetic Variants

Gene:CELSR2
Variant:p.H1267R
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CELSR2

NM_001408.3:p.H1267R

Associated Papers

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.

Bacchelli E et al.

Journal of Clinical Medicine, 2019

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Ishida M et al.

Clinical Genetics, 2018

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Karyadi DM et al.

Oncotarget, 2017

27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1

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-A8-A0AD-01A.domain

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M et al.

Circulation. Cardiovascular Genetics, 2012

22923420 (PubMed )
Supplement: 963165_supplemental_material.pdf
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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."