Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.D2182H
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SPTA1

NM_003126.4:p.D2182H

Associated Papers

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

Cheng J et al.

Frontiers in Pediatrics, 2025

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

Chen X et al.

Journal of Hematopathology, 2023

Cancer carrier screening in the general population using whole-genome sequencing.

Chang YS et al.

Cancer Medicine, 2023

35861108 (PubMed )
Supplement: CAM4-12-1972-s007.xlsx › Table_S6

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5
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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."