Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
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DOI: 10.1101/mcs.a006165
Abstract: Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who presented with hypotonia, profound developmental… read more here.
Keywords: two siblings; pontocerebellar hypoplasia; hypoplasia type; biallelic sepsecs ... See more keywords