Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.E36*
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ASPA

NM_000049.4:p.E36*

Associated Papers

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

Hosseini-Maaf B et al.

Bmc Genetics, 2003

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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."