Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.F239L
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ATRX

NM_000489.6:p.F239L

Associated Papers

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.

Arvio M et al.

American Journal of Medical Genetics. Part A, 2021

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.

Ren X et al.

Oncology Letters, 2018

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ et al.

American Journal of Medical Genetics, 2000

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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."