Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.R319*
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ANK1

NM_001142446.2:p.R319*

Associated Papers

Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.

Wu C et al.

Orphanet Journal of Rare Diseases, 2024

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.

Kang M et al.

Frontiers in Genetics, 2023

36816036 (PubMed )
Supplement: Table1.DOCX

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

Yang L et al.

Clinical Genetics, 2022

Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.

Xu C et al.

Experimental and Therapeutic Medicine, 2022

35949318 (PubMed )
Supplement: Supplementary_Data.pdf

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.

Wu C et al.

Frontiers in Genetics, 2021

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

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S et al.

British Journal of Haematology, 2020

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Aggarwal A et al.

British Journal of Haematology, 2020

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China.

Wang X et al.

Frontiers in Genetics, 2020

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

van Vuren A et al.

Hemasphere, 2019

[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

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R et al.

Science China. Life Sciences, 2018

[Identification of a nonsense mutation causing X-linked RP2 in two Chinese families].

Liu L et al.

Zhonghua Yi Xue Za Zhi, 2001

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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."