Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.R808H
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SLC4A1

NM_000342.4:p.R808H

Associated Papers

Hereditary stomatocytosis in the general population: A genetically based prevalence estimate from a 109 039 individual Danish cohort.

Mottelson M et al.

American Journal of Hematology, 2025

Genotype-degree of hemolysis correlation in hereditary spherocytosis.

Shi Y et al.

Bmc Genomics, 2023

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Wang WJ et al.

Clinical Genetics, 2023

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Yang L et al.

Clinical Genetics, 2022

Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.

Vercellati C et al.

Frontiers in Physiology, 2022

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd06.xlsx › Table_S6

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Xie F et al.

Molecular Genetics & Genomic Medicine, 2021

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Fermo E et al.

Frontiers in Physiology, 2021

Exome sequencing for diagnosis of congenital hemolytic anemia.

Mansour-Hendili L et al.

Orphanet Journal of Rare Diseases, 2020

Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Van Zwieten R et al.

American Journal of Hematology, 2013

A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.

Von Kanel T et al.

American Journal of Hematology, 2013

A de novo band 3 mutation in hereditary spherocytosis.

Bogardus HH et al.

Pediatric Blood & Cancer, 2012

Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency.

Maciag M et al.

Acta Haematologica, 2006

[A case of hereditary over-hydrated stomatocytosis with stomatospherocytes and spherocytes in the blood].

Kościelak J et al.

Medycyna Wieku Rozwojowego, 0

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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."