Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.E9*
Back to variants list

AK2

NM_001625.4:p.E9*

Associated Papers

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

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 3._co-segregation

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

Hoenig M et al.

British Journal of Haematology, 2018

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M et al.

Blood, 2017

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

Lagresle-Peyrou C et al.

Nature Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."