Varaico: Literature-Extracted Genetic Variants

Gene:RHAG
Variant:p.G380V
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RHAG

NM_000324.3:p.G380V

Associated Papers

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

The Rh protein family: gene evolution, membrane biology, and disease association.

Huang CH et al.

Cellular and Molecular Life Sciences : Cmls, 2010

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

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

Smith PJ et al.

Human Molecular Genetics, 2006

Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Cartegni L et al.

Nature Reviews. Genetics, 2002

Molecular biology and genetics of the Rh blood group system.

Huang CH et al.

Seminars in Hematology, 2000

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

Blood group immunochemistry and genetics.

Unknown Author

Seminars in Hematology, 1981

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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