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PVRL1 Variants Contribute to Non-Syndromic Cleft Lip and Palate in Multiple Populations

Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation i...

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Dettagli Bibliografici
Autori principali: Avila, Joseph R., Jezewski, Peter A., Vieira, Alexandre R., Orioli, Iêda M., Castilla, Eduardo E., Christensen, Kaare, Daack-Hirsch, Sandra, Romitti, Paul A., Murray, Jeffrey C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1885468/
https://ncbi.nlm.nih.gov/pubmed/17089422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31367
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