Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.P320R
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ESX1

NM_153448.4:p.P320R

Associated Papers

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM7_ESM.xlsx › SNV

Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.

Kim KT et al.

Genome Biology, 2015

26084335 (PubMed )
Supplement: 13059_2015_692_MOESM2_ESM.xls › Pt_tumor

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK et al.

Orphanet Journal of Rare Diseases, 2014

24721225 (PubMed )
Supplement: 1750-1172-9-49-S1.xls › Sheet1
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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."