Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the
search for the cause of genetic diseases. Determination of such pathogenic variants from a …

Variants that disrupt normal pre-mRNA splicing are increasingly being recognized as a
major cause of monogenic disorders. The SCN1A gene, a key epilepsy gene that is linked to …

Variants in GCK, HNF1A, and HNF4A genes are the three main causes of monogenic
diabetes. Determining the molecular etiology is essential for patients with monogenic …

Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Abstract Background Single-nucleotide variants (SNVs) within gene coding sequences can
significantly impact pre-mRNA splicing, bearing profound implications for pathogenic …

Routine gene panel analysis identifies pathogenic variants in clinically relevant genes.
However, variants of unknown significance (VUSs) are commonly observed, many of which …

Introduction: Charcot–Marie–Tooth disease type 4C (CMT4C) OMIM# 601596 stands out as
one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This …

Lynch syndrome (LS) is a common hereditary cancer syndrome caused by heterozygous
germline pathogenic variants in DNA mismatch repair (MMR) genes. Splicing defect …

In oncogenetics, some patients could be considered as “extreme phenotypes”, such as
those with very early onset presentation or multiple primary malignancies, unusually high …

Background Exploring the expression of X linked disorders like haemophilia A (HA) in
females involves understanding the balance achieved through X chromosome inactivation …