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Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)-case report and review of the literature.
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- Prenatal Diagnosis, 2005, v. 25, n. 10, p. 954, doi. 10.1002/pd.1252
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- Article
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
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- Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614
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- Publication type:
- Article
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
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- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496
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- Article