Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.E378D
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SDCCAG8

NM_006642.5:p.E378D

Associated Papers

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Graham SE et al.

Nature Communications, 2019

31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Helm BM et al.

Human Genomics, 2017

28724397 (PubMed )
Supplement: 40246_2017_111_MOESM1_ESM.pdf

Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing.

Volckmar AL et al.

Plos One, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00011-Table_S14.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-AO-A03R-01A.domain
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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."