Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.V194I
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ATRX

NM_000489.6:p.V194I

Associated Papers

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Cong Y et al.

Frontiers in Pediatrics, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study.

Palaniappan C et al.

Journal of Cellular Biochemistry, 2017

Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

Chou WC et al.

International Journal of Biological Sciences, 2016

27994516 (PubMed )
Supplement: ijbsv12p1523s2.pdf

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Wada T et al.

American Journal of Medical Genetics. Part A, 2006

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Steensma DP et al.

Blood, 2004

Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

Wada T 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."