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Assessment of whole-exome sequencing results in neurogenetic diseases - Journal of Human Genetics

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Assessment of whole-exome sequencing results in neurogenetic diseases - Journal of Human Genetics

Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES) has led to great advances in the understanding of the causes of neurogenetic diseases. Etiological research ends with the WES method in many patients. This etiological research is called a "diagnostic odyssey” for many families. Here, we present the results of 168 patients who were previously undiagnosed and underwent WES with the suspicion of neurogenetic disease.

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Assessment of whole-exome sequencing results in neurogenetic diseases - Journal of Human Genetics

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