Varaico: Literature-Extracted Genetic Variants

Gene:ART4
Variant:p.L300V
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ART4

NM_021071.4:p.L300V

Associated Papers

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

The genomic landscape of blood groups in Indigenous Australians in remote communities.

Jadhao S et al.

Transfusion, 2022

35403234 (PubMed )
Supplement: TRF-62-1110-s001.xlsx › Supplementary_Table_4

DO/ART4 gene sequencing in sub-Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants.

Chapel-Fernandes S et al.

Transfusion, 2019

Synonymous nucleotide polymorphisms influence Dombrock blood group protein expression in K562 cells.

de Coulgeans CD et al.

British Journal of Haematology, 2014

Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele.

Piassi FC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2013

A PCR-based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO* A-WL.

Baleotti W et al.

Journal of Clinical Laboratory Analysis, 2011

Dombrock genotyping in a native Congolese cohort reveals two novel alleles.

Chapel-Fernandes S et al.

Transfusion, 2009

Dombrock gene analysis in Brazilian people reveals novel alleles.

Baleotti W et al.

Vox Sanguinis, 2006

Short deletion within the blood group Dombrock locus causing a Do(null) phenotype.

Lucien N et al.

Blood, 2002

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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."