Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG2
Variant:p.C949delFs
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ADGRG2

NM_001079858.3:p.C949delFs

Associated Papers

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Pagin A et al.

Andrology, 2020

Genetic defects in human azoospermia.

Ghieh F et al.

Basic and Clinical Andrology, 2019

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

Patat O et al.

American Journal of Human Genetics, 2016

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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."