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Insufficiently evaluated not reviewed
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Summary of published research, and additional commentary
Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S,
Sel S, Wieacker P, Röpke A. WNT10A mutations are a frequent cause of a broad
spectrum of ectodermal dysplasias with sex-biased manifestation pattern in
heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. Epub 2009 Jun 25. PubMed
PMID: 19559398; PubMed Central PMCID: PMC2706962.
Reported in this publication as a probable rare polymorphism (rs77583146), “given that it was found in trans position with the considered pathogenetic mutation c.682T>A in two completely unaffected individuals in a family.”
hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr2:219754822
GS06985 - var-GS06985-1100-36-ASM
het A @ chr2:219463066