Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P300L
Back to variants list

SOX9

NM_000346.4:p.P300L

Associated Papers

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.

Michel-Calemard L et al.

Prenatal Diagnosis, 2004

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."