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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1468, doi. 10.1172/JCI70372
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- Article
A Novel Mouse <i>Fgfr2</i> Mutant, Hobbyhorse (<i>hob</i>), Exhibits Complete XY Gonadal Sex Reversal.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100447
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- Article
Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12067-y
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- Article
Unfolded protein response markers Grp78 and eIF2alpha are upregulated with increasing alpha‐synuclein levels in Lewy body disease.
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- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.12999
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- Article
Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk.
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- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1001372
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- Article
Functional requirements for fukutin-related protein in the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3319, doi. 10.1093/hmg/11.26.3319
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- Article
The effects of post-translational processing on dystroglycan synthesis and trafficking<sup>1</sup><FN ID="FN1"><NO>1</NO>EMBL accession number AJ584830.</FN>
- Published in:
- FEBS Letters, 2003, v. 555, n. 2, p. 209, doi. 10.1016/S0014-5793(03)01230-4
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- Article