Additional file 9: Table S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Résumé fourni par la source

Sequencing data metrics for the COPA mutation. The call ratios of the COPA mutation for the index case, affected son and daughter, and unaffected husband, mother, and father from the WGS data. Additionally, the Sanger sequencing genotypes for the three siblings of the index case are listed. (DOCX 13 kb)

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.