Varaico: Literature-Extracted Genetic Variants

Gene:ALX1
Variant:p.Q177_V178Splc
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ALX1

NM_006982.3:p.Q177_V178Splc

Associated Papers

ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management.

Vargel I et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.

Pini J et al.

Embo Molecular Medicine, 2020

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Ullah A et al.

Clinical Genetics, 2017

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

Kayserili H et al.

American Journal of Medical Genetics. Part A, 2012

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Uz E et al.

American Journal of Human Genetics, 2010

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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."