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Details on Person Tzschach, Andreas
| Class:Id | Person:3702130 |
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| _displayName | Tzschach, Andreas |
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| _timestamp | 2013-06-13 12:04:39 |
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| created | [InstanceEdit:3702106] Jassal, B, 2013-06-13 |
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| firstname | Andreas |
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| initial | A |
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| surname | Tzschach |
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| (author) | [LiteratureReference:3702124] Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
[LiteratureReference:3702132] ST3GAL3 mutations impair the development of higher cognitive functions
[LiteratureReference:4420042] Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
[LiteratureReference:4755571] An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
[LiteratureReference:4836508] A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family
[LiteratureReference:4836535] A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
[LiteratureReference:4839778] Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
[LiteratureReference:8877777] Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly |
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No pathways have been reviewed or authored by Tzschach, Andreas (3702130)
