Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.L576P
Back to variants list

SCNN1A

NM_001038.6:p.L576P

Associated Papers

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.

Serra G et al.

Italian Journal of Pediatrics, 2021

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."