Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF3
Variant:p.S1005R
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ARFGEF3

NM_020340.5:p.S1005R

Associated Papers

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

34716697 (PubMed )
Supplement: MGG3-9-e1836-s001.xlsx › Feuil1

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Caorsi R et al.

Frontiers in Immunology, 2017

29434583 (PubMed )
Supplement: table_1.xls › Foglio1
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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."