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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
UploadA biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
UploadBiallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy
Download from onlinelibrary.wiley.comHereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots
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