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PSEUDODOMINANT INHERITANCE OF BIALLELIC RFC1 EXPANSIONS CAUSING HSN WITH COUGH AND GASTROESOPHAGEAL REFLUX

Bianca Grosz,Melina Ellis, Shuchi Trivedi,Carolin Scriba,Gianina Ravenscroft,Nigel Laing, Sanjog Chintalaphani,Igor Stevanovski,Ira Deveson,Samantha Bryen,Cas Simons,Mary Reilly,Andrea Cortese,Garth Nicholson,Penelope Spring,Kishore Kumar,Steve Vucic,Marina Kennerson

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2024）

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Key words
Hereditary sensory neuropathy,RFC1,pseudodominant,long-read sequencing,expansion
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