Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.V283A
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ATRX

NM_000489.6:p.V283A

Associated Papers

Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence.

Alhuthali HM et al.

Thrombosis Journal, 2023

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Alaithan MA et al.

Saudi Medical Journal, 2018

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

Hamzeh AR et al.

Irish Journal of Medical Science, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Molecular nature of alpha-globin genes in the Saudi population.

Borgio JF

Saudi Medical Journal, 2015

Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie AN et al.

Blood Cells, Molecules & Diseases, 2015

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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."