Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.P756fs
Back to variants list

L1CAM

NM_001278116.2:p.P756fs

Associated Papers

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

Griseri P et al.

European Journal of Human Genetics : Ejhg, 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."