Varaico: Literature-Extracted Genetic Variants

Gene:ETV3L
Variant:p.R203Splc
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ETV3L

NM_001004341.2:p.R203Splc

Associated Papers

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.2.2-ClassUnknown_Splice

Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.

Lim B et al.

Oncotarget, 2015

26109429 (PubMed )
Supplement: oncotarget-06-22179-s002.xls › Table_S8.

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Rafiullah R et al.

Journal of Neurogenetics, 0

36508181 (PubMed )
Supplement: supplement_1.xlsx › Table_of_filtered_variants
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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."