Varaico: Literature-Extracted Genetic Variants

Gene:SMIM1
Variant:p.M51K
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SMIM1

NM_001288583.2:p.M51K

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

SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.

Arnoni CP et al.

Blood Transfusion = Trasfusione Del Sangue, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Impact of genetic variation in the SMIM1 gene on Vel expression levels.

Haer-Wigman L et al.

Transfusion, 2015

SMIM1 underlies the Vel blood group and influences red blood cell traits.

Cvejic A et al.

Nature Genetics, 2013

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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."