Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.S143delFs
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ARHGEF2

NM_001162383.2:p.S143delFs

Associated Papers

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Piotter E et al.

Frontiers in Genetics, 2021

35154257 (PubMed )
Supplement: DataSheet1.xlsx › 3._Chinese_patients

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Hu FY et al.

Frontiers in Genetics, 2019

31543898 (PubMed )
Supplement: Table_3.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."