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Authors whose works are in public domain in at least one jurisdiction

List of works by Peter Sparber

Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect

scientific article published on 03 April 2019

Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing

scientific article published on 03 November 2018

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

scientific article published on 22 October 2020

The role of long non-coding RNAs in the pathogenesis of hereditary diseases

scientific article published on 13 March 2019

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