1. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons
   Mina Nakama et al, 2018, Gene CrossRef
2. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
   Sarah Catharina Grünert et al, 2017, Molecular Genetics and Metabolism CrossRef
3. Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control
   Katarzyna Taylor et al, 2020, International Journal of Molecular Sciences CrossRef
4. Mutation in an exonic splicing enhancer site causing chronic granulomatous disease
   Martin de Boer et al, 2017, Blood Cells, Molecules, and Diseases CrossRef
5. The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target
   Afsaneh Goudarzi, 2019, Life Sciences CrossRef
6. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype
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7. A series of 10 Polish patients with thromboembolic events and antithrombin deficiency
   Magdalena Wójcik et al, 2019, Blood Coagulation & Fibrinolysis CrossRef
8. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
   Elsayed Abdelkreem et al, 2019, Human Mutation CrossRef
9. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
   Toshiyuki Fukao et al, 2019, Journal of Human Genetics CrossRef
10. CRISPR-induced exon skipping is dependent on premature termination codon mutations
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11. Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene
    Hideo Sasai et al, 2017, Molecular Genetics & Genomic Medicine CrossRef
12. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
    Sarah C. Grünert et al, 2020, Orphanet Journal of Rare Diseases CrossRef
13. An Identification of Functional Genetic Variants in B4GALNT2 Gene and Their Association with Growth Traits in Goats
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