Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

Single-nucleotide polymorphisms (SNPs) are single-base variants that contribute to human
biological variation and pathogenesis of many human diseases. Among all SNP types …

Simple Summary Pheochromocytoma/paraganglioma (PPGL) has been recognised as one
of the most frequent inherited tumours with genetic heterogeneity based on studies in …

Single nucleotide variants (SNVs) are single base substitutions that could influence many
biological functions in the cell including gene expression, protein folding, and protein …

Neurofibromin is engaged in many cellular processes and when the proper protein
functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common …

Background Pathogenic variants of MYH7, which encodes the beta-myosin heavy chain
protein, are major causes of dilated and hypertrophic cardiomyopathy. Methods In this study …

Background Improving the clinical interpretation of missense variants can increase the
diagnostic yield of genomic testing and lead to personalised management strategies …

Abstract Neurofibromatosis type 1 (NF1) belongs to RASopathies, a group of syndromes
caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patients exhibit …

Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …