Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.L1340P
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ANK1

NM_000037.4:p.L1340P

Associated Papers

The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis.

Shen H et al.

Genetic Testing and Molecular Biomarkers, 2024

Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.

Machnicka B et al.

Life (basel, Switzerland), 2023

Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.

Hao L et al.

Journal of Cellular and Molecular Medicine, 2019

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.

Luo Y et al.

Acta Haematologica, 2018

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.

Bogusławska DM et al.

Annals of Hematology, 2017

A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?

Bogusławska DM et al.

British Journal of Haematology, 2014

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.

He BJ et al.

Acta Haematologica, 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."