Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.S207*
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ALX4

NM_021926.4:p.S207*

Associated Papers

Variants in ALX4 and their association with genitourinary defects.

Chen CH et al.

Andrology, 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

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

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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."