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.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| 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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