Article

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

2021-09-25

Abstract excerpt

Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant inheritance from a cohort of 500 Brazilian patients with rare disease...

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Literature Corpus work: 7b91ba95-6742-53cd-8d99-5de17128686d
DOI: 10.22541/au.163255745.52740737/v1

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