Varaico: Literature-Extracted Genetic Variants

Gene:BRINP1
Variant:p.R607W
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BRINP1

NM_014618.3:p.R607W

Associated Papers

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Begemann A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149277 (PubMed )
Supplement: 41436_2020_1011_MOESM1_ESM.pdf

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_1

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

Stark MS et al.

Nature Genetics, 2011

22197930 (PubMed )
Supplement: NIHMS340429-supplement-2.xlsx › 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."