Varaico: Literature-Extracted Genetic Variants

Gene:ALX3
Variant:p.Q198_V199Splc
Back to variants list

ALX3

NM_006492.3:p.Q198_V199Splc

Associated Papers

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

Kayserili H et al.

American Journal of Medical Genetics. Part A, 2012

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR et al.

American Journal of Human Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."