Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.N192K
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AQP1

NM_198098.4:p.N192K

Associated Papers

A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.

Saison C et al.

Vox Sanguinis, 2012

A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system.

Arnaud L et al.

Transfusion, 2010

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Sorani MD et al.

Human Mutation, 2008

An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN.

Joshi SR et al.

Transfusion, 2001

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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."