Associated Papers
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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
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Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
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