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Additional file 3: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Authors :
Calender, Alain
Farnier, Pierre Rollat
Buisson, Adrien
Pinson, Stéphane
Abderrazzaq Bentaher
Lebecque, Serge
Corvol, Harriet
Taam, Rola Abou
Houdouin, Véronique
Bardel, Claire
Roy, Pascal
Devouassoux, Gilles
Cottin, Vincent
Seve, Pascal
Jean-François Bernaudin
Lim, Clarice
Weichhart, Thomas
Valeyre, Dominique
Pacheco, Yves
Clement, Annick
Nathan, Nadia
Publication Year :
2018
Publisher :
figshare, 2018.

Abstract

Table S3. Composite heterozygocity observed in a common gene in at least two different trios. Possibly pathogenic compound heterozygous variants (allelic heterogeneity) observed in different positions of a common gene in at least two trios. The origin of either the paternal and maternal allele was detailed for each variant. Abbreviations are the same as in Tables 1, 2, Additional files 1 and 2: Tables S1 and S2. (DOCX 51 kb)

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....579431e6a5c8ffcad0cdd9f5f6f5a726
Full Text :
https://doi.org/10.6084/m9.figshare.5955313