Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.G1677R
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SPTA1

NM_003126.4:p.G1677R

Associated Papers

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Andolfo I et al.

Genes, 2021

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.

Wang X et al.

Molecular Medicine Reports, 2019

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Khurana M et al.

Cold Spring Harbor Molecular Case Studies, 2018

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

Al-Riyami AZ et al.

American Journal of Hematology, 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."