Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.G165D
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AQP1

NM_198098.4:p.G165D

Associated Papers

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11

The relationship between major intrinsic protein genes and cataract.

Sun W et al.

International Ophthalmology, 2021

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Genetic polymorphisms in aquaporin 1 as risk factors for malignant mesothelioma and biomarkers of response to cisplatin treatment.

Senk B et al.

Radiology and Oncology, 2019

Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data.

Schoeman EM et al.

Transfusion, 2019

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

Sorani MD et al.

Human Mutation, 2008

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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."