Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.T837M
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SLC4A1

NM_000342.4:p.T837M

Associated Papers

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

Donaty L et al.

British Journal of Haematology, 2026

Genotype-degree of hemolysis correlation in hereditary spherocytosis.

Shi Y et al.

Bmc Genomics, 2023

Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.

Chen X et al.

Journal of Hematopathology, 2023

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Wang D et al.

Frontiers in Pharmacology, 2021

34335240 (PubMed )
Supplement: Table1.DOCX

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S et al.

British Journal of Haematology, 2020

[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].

Peng GX et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Yenchitsomanus PT et al.

Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005

Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.

Zhu Q et al.

The Journal of Biological Chemistry, 2003

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.

Quilty JA et al.

Traffic (copenhagen, Denmark), 2000

Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.

Jarolim P et al.

Blood, 1996

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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."