Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.H54P
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SPTA1

NM_003126.4:p.H54P

Associated Papers

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

Chen X et al.

Journal of Hematopathology, 2023

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.

Ma S et al.

Applied Bionics and Biomechanics, 2022

Analysis of the causes of the misdiagnosis of hereditary spherocytosis.

Ma S et al.

Oncology Reports, 2018

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Ma S et al.

Molecular Medicine Reports, 2018

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.

He Y et al.

Gene, 2017

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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."