Varaico: Literature-Extracted Genetic Variants

Gene:ADGRG2
Variant:p.C949fs
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ADGRG2

NM_001079858.3:p.C949fs

Associated Papers

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

Pagin A et al.

Andrology, 2020

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

Yuan P et al.

Andrology, 2019

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

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

Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population.

Yang B et al.

Andrology, 2017

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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."