Found: 11
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Molecular and cellular characterization of novel α-mannosidosis mutations.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2651, doi. 10.1093/hmg/ddr167
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- Publication type:
- Article
Clinical utility gene card for: α-Mannosidosis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5
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- Publication type:
- Article
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55515-x
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- Article
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0286-x
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- Publication type:
- Article
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- 2015
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- Publication type:
- journal article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110
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- Publication type:
- Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Early onset alpha-mannosidosis with slow progression in three Hispanic males.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 11, p. 854, doi. 10.1111/j.1469-8749.2007.00854.x
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- Publication type:
- Article
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002
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- Publication type:
- Article
amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787
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- Publication type:
- Article
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005
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- Publication type:
- Article