Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E593*
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ZFHX3

NM_006885.4:p.E593*

Associated Papers

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

Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences.

Serio PAMP et al.

Cells, 2021

34944094 (PubMed )
Supplement: cells-10-03586-s001.zip › cells-1349475-supplementary › Supplementary_Tables.xlsx › Table_S4

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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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."