Publications
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Author Title [ Year] Filters: Keyword is Humans and Author is Sandaradura, Sarah A [Clear All Filters]
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).