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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E., Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2020
Gaiak:
Research Article
Sarrera elektronikoa: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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