Varaico: Literature-Extracted Genetic Variants

Gene:GPC6
Variant:p.R171W
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GPC6

NM_005708.5:p.R171W

Associated Papers

Five siblings expand the spectrum of GPC6-related skeletal dysplasia.

Crenshaw MM et al.

American Journal of Medical Genetics. Part A, 2023

Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Cheng C et al.

Gigascience, 2016

26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel

Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

Zhang L et al.

American Journal of Human Genetics, 2015

25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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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."