Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.P38L
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AQP1

NM_198098.4:p.P38L

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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

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

Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels.

Preston GM et al.

Science (new York, N.y.), 1994

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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."