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Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningocele subjects than in reference subjects in gnomAD...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E., Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7514064/
https://ncbi.nlm.nih.gov/pubmed/32970752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0239083
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