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Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 257, doi. 10.1159/000536069
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- Article
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
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- British Journal of Haematology, 2024, v. 205, n. 1, p. 236, doi. 10.1111/bjh.19575
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- Article
A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 173, doi. 10.1002/ajmg.a.63010
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- Article