Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.K211E
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ALX4

NM_021926.4:p.K211E

Associated Papers

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

Cain B et al.

Nature Communications, 2025

De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

Fonteles CS et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2021

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y et al.

Current Genetic Medicine Reports, 2014

Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Matsumaru D et al.

European Journal of Human Genetics : Ejhg, 2014

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G et al.

Human Mutation, 2012

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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."