Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.R218Q
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ALX4

NM_021926.4:p.R218Q

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

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

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

El-Ruby M et al.

American Journal of Medical Genetics. Part A, 2018

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

[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

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Altunoglu U et al.

American Journal of Medical Genetics. Part A, 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

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

Homeodomain revisited: a lesson from disease-causing mutations.

Chi YI

Human Genetics, 2005

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Mavrogiannis LA et al.

Nature Genetics, 2001

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

Valente M et al.

Ajnr. American Journal of Neuroradiology, 0

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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."