Synonymous variants can impact on disease, in this case via altered splicing: A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome url: academic.oup.com/hmg/article-...
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A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome
Abstract. Raine syndrome (RNS) is an autosomal recessive neonatal osteosclerotic bone dysplasia that usually results in death in the postnatal period. Pati
