Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.P2189L
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SPEG

NM_005876.5:p.P2189L

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

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

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Lazar IM et al.

Scientific Reports, 2019

31316139 (PubMed )
Supplement: 41598_2019_46897_MOESM3_ESM.xlsx › Table_S1

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

Meeus B et al.

Journal of Alzheimer's Disease : Jad, 2010

20164589 (PubMed )
Supplement: sj-pdf-1-alz-10.3233_jad-2010-1356.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."