Varaico: Literature-Extracted Genetic Variants

Gene:AEBP1
Variant:p.R745Q
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AEBP1

NM_001129.5:p.R745Q

Associated Papers

The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-β signalling.

He Z et al.

Cardiovascular Research, 2024

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report.

Khurana S et al.

Annals of Indian Academy of Neurology, 0

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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."