Dataset features

Specifications


Application: aCGH data analysis
Number of samples: 8
Release date: Mar 8 2017
Last update date: Mar 11 2017
Access: Public
Mutations: c|SUB|T|-307|C
Dataset link Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

Experimental Protocol


Eight PPCD probands without a ZEB1 protein-coding region pathogenic variant were analyzed for copy number variation within the PPCD1 (chromosome 20) and the PPCD3 (chromosome 10) loci.

Repositories


GEO

GSE84940

BioProject

PRJNA335716

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Contact


Anthony Aldave

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