Varaico: Literature-Extracted Genetic Variants

Gene:SMIM1
Variant:p.L54P
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SMIM1

NM_001288583.2:p.L54P

Associated Papers

SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation.

van der Rijst MVE et al.

Transfusion, 2021

Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.

van der Rijst MVE et al.

Transfusion, 2019

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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."