Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.G729S
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ABCB6

NM_005689.4:p.G729S

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

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Farrell CP et al.

Blood Advances, 2022

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 genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613704_ndcnpj.xlsx › Mutation_List_PoN
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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."