Study

SSBP1

Study ID Alternative Stable ID Type
EGAS00001004003 Other

Study Description

SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005475
The dataset includes exome sequencing results for a patient with SSBP1 mutations that cause a complex optic atrophy spectrum disorder
1

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