Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.Q29P
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SPTA1

NM_003126.4:p.Q29P

Associated Papers

Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.

Alamr F

Journal of Medicine and Life, 2025

A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.

Shih YH et al.

Medicine, 2023

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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."