Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.G175E
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ATRX

NM_000489.6:p.G175E

Associated Papers

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

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

Cong Y et al.

Frontiers in Pediatrics, 2022

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

Comparative analysis of ATRX, a chromatin remodeling protein.

Park DJ et al.

Gene, 2004

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Cardoso C et al.

Journal of Medical Genetics, 2000

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."