Varaico: Literature-Extracted Genetic Variants

Gene:ZFX
Variant:p.R786Q
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ZFX

NM_003410.4:p.R786Q

Associated Papers

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Showpnil IA et al.

American Journal of Medical Genetics. Part A, 2026

Association of germline variants in the ZFX gene with primary hyperparathyroidism.

Aranaga-Decori AC et al.

Plos One, 2025

A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism.

Guan B et al.

Jcem Case Reports, 2024

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Zhou R et al.

Iscience, 2022

36117989 (PubMed )
Supplement: mmc5.xlsx › DBD_missense_mutations

FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.

Yu SL et al.

Scientific Reports, 2020

32694622 (PubMed )
Supplement: 41598_2020_69059_MOESM2_ESM.xlsx › PuiBALL_with_purity_4_pp

Recurrent ZFX mutations in human sporadic parathyroid adenomas.

Soong CP et al.

Oncoscience, 2014

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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."