@article{e9af90df08294abe9cfc78959c743bc0,
title = "Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?",
keywords = "copy number variants (CNV), genetic diagnosis, Large genes, variant interpretation, variants of uncertain significance (VUS), connectin, nebulin, RNA binding protein, ryanodine receptor 1, alternative RNA splicing, biological model, computer model, copy number variation, deep learning, DMD gene, gene, gene size, genetic variability, human, induced pluripotent stem cell, missense mutation, myopathy, NEB gene, nonhuman, pathophysiology, priority journal, Review, RNA sequencing, RYR1 gene, single nucleotide polymorphism, TTN gene, 1184 Genetics, developmental biology, physiology",
author = "Marco Savarese and Salla V{\"a}lipakka and Mridul Johari and Peter Hackman and Bjarne Udd",
year = "2020",
doi = "10.3233/JND-190459",
language = "English",
volume = "7",
pages = "203--216",
journal = "Journal of Neuromuscular Diseases",
issn = "2214-3599",
publisher = "IOS PRESS",
number = "3",
}