Publications
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Author Title [ Year] Filters: First Letter Of Title is R and Author is Bryen, Samantha J [Clear All Filters]
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).