Study

Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Study ID Alternative Stable ID Type
EGAS00001004176 Exome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005937
Raw Whole Exome Sequencing data from Blood samples drawn from related Female participants presenting severe congenital neutropenia.
Illumina HiSeq 2500 2

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Publications

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