Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.S265Y
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ADGRD1

NM_198827.5:p.S265Y

Associated Papers

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).

Fischer L et al.

Bmc Genomics, 2016

27516204 (PubMed )
Supplement: 12864_2016_2937_MOESM1_ESM.xlsx › inspected_nsSNP

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S et al.

Human Molecular Genetics, 2012

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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."