Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

Author:

Chin Hui-LinORCID,Lin Susan,Dalmann Joshua,Modi BhaviORCID,Alderman Emily,Salman AreeshaORCID,Del Bel Kate L.,Lehman Anna,Turvey Stuart E.ORCID,Boerkoel Cornelius F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference18 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Abramowicz;J Appl Genet,2018

2. A genetic modifier of symptom onset in Pompe disease;Bergsma;EBioMedicine,2019

3. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II;Boerkoel;Am. J. Hum. Genet.,1995

4. Presynaptic dysfunction in neurodevelopmental disorders: insights from the synaptic vesicle life cycle;Bonnycastle;J. Neurochem.,2021

5. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis;Caminsky;F1000Research,2014

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