Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.P190S
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ATRX

NM_000489.6:p.P190S

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

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

Ren X et al.

Oncology Letters, 2018

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C et al.

Clinical Genetics, 2006

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ et al.

American Journal of Medical Genetics, 2000

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L et al.

Journal of Medical Genetics, 1999

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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."