Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.A2126V
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ZFHX3

NM_006885.4:p.A2126V

Associated Papers

Trio Exome Sequencing in VACTERL Association.

Ćomić J et al.

Kidney International Reports, 2025

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Pérez Baca MDR et al.

American Journal of Human Genetics, 2024

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

Del Rocío Pérez Baca M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS18

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.

Zhang R et al.

Plos One, 2020

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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."