Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.R272P
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ALX4

NM_021926.4:p.R272P

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

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Peled A et al.

American Journal of Medical Genetics. Part A, 2023

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

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Morita M et al.

No to Hattatsu = Brain and Development, 2016

Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.

Xu X et al.

Journal of Structural and Functional Genomics, 2014

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

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

Bertola DR et al.

American Journal of Medical Genetics. Part A, 2013

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G et al.

Human Mutation, 2012

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Mavrogiannis LA et al.

European Journal of Human Genetics : Ejhg, 2006

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

Wuyts W et al.

Journal of Medical Genetics, 2000

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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."