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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHCE

Variant:p.S112Splc

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RHCE

NM_020485.8:p.S112Splc

hg38:chr1:25408680 T>A

Associated Papers

The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.

Restivo C et al.

Transfusion, 2022

35098548 (PubMed )

Four novel silenced RHCE.

Aeschlimann J et al.

Transfusion, 2018

30284287 (PubMed )

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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."