Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy
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| Description | scientific article published on 22 December 2020 |
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author: Jozef L Hertecant Peter Bauer Aida M Bertoli-Avella Malak Alghamdi Maha Alotaibi Ana Westenberger Arndt Rolfs Christian Beetz |
| Publication date | December 22, 2020 |
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