Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.L606fs
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ANK1

NM_000037.4:p.L606fs

Associated Papers

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.

Cheng J et al.

Frontiers in Pediatrics, 2025

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

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

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
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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."