Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.V647I
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ERAP1

NM_001040458.3:p.V647I

Associated Papers

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 › HL2

The genetic component of preeclampsia: A whole-exome sequencing study.

Hansen AT et al.

Plos One, 2018

Structural basis for antigenic peptide precursor processing by the endoplasmic reticulum aminopeptidase ERAP1.

Nguyen TT et al.

Nature Structural & Molecular Biology, 2011

Investigating the genetic association between ERAP1 and ankylosing spondylitis.

Harvey D et al.

Human Molecular Genetics, 2009

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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."