Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.V270I
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RHAG

NM_000324.3:p.V270I

Associated Papers

An update on the RHAG blood group system.

Tilley LA

Immunohematology, 2025

Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Akdeniz D et al.

Molecular Genetics & Genomic Medicine, 2019

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings.

Storry JR et al.

Vox Sanguinis, 2019

Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.

Petkova-Kirova P et al.

Frontiers in Physiology, 2019

Complete RHD next-generation sequencing: establishment of reference RHD alleles.

Tounsi WA et al.

Blood Advances, 2018

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.

Jamwal M et al.

Journal of Clinical Pathology, 2018

Optimized Antigen-Matched in Sickle Cell Disease Patients: Chances and Challenges in Molecular Times - the Brazilian Way.

Castilho L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2018

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia.

Chou ST et al.

Blood Advances, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).

Storry JR et al.

Vox Sanguinis, 2014

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Grodecká L et al.

Plos One, 2014

24586880 (PubMed )
Supplement: pone.0089570.s004.xlsx › exon_border_not_preserved

A family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene.

Tian L et al.

Transfusion, 2011

A new blood group system, RHAG: three antigens resulting from amino acid substitutions in the Rh-associated glycoprotein.

Tilley L et al.

Vox Sanguinis, 2010

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

Huang CH et al.

American Journal of Hematology, 1999

Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.

Callebaut I et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 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."