Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.Q225E
Back to variants list

ALX4

NM_021926.4:p.Q225E

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

The ALX4 dimer structure provides insight into how disease alleles impact function.

Cain B et al.

Nature Communications, 2025

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

Variants in ALX4 and their association with genitourinary defects.

Chen CH et al.

Andrology, 2020

A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.

Hussain S et al.

Genetic Testing and Molecular Biomarkers, 2020

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.

Meloni VA et al.

Clinical Genetics, 2015

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Kariminejad A et al.

American Journal of Medical Genetics. Part A, 2014

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Ferrarini A et al.

American Journal of Medical Genetics. Part A, 2014

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.

Bertola DR et al.

American Journal of Medical Genetics. Part A, 2013

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.

Ribeiro-Bicudo LA et al.

American Journal of Medical Genetics. Part A, 2012

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.

Kayserili H et al.

American Journal of Medical Genetics. Part A, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."