Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.R190W
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GFI1B

NM_001377304.1:p.R190W

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

van Oorschot R et al.

Haematologica, 2019

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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."