Found 5 datasets matching "splice-variants".
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Background Mutation analysis of the neurofibromatosis type 1 (NF1) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several...
Search relevance: 155.15 | Views last month: 0 -
Publicly available genetic sequence data were searched for human sequences that potentially represent protein kinases, important players in virtually every signaling pathway. After removal of...
Search relevance: 81.21 | Views last month: 2 -
Background Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene,...
Search relevance: 64.75 | Views last month: 1 -
Background SP100 is a nuclear protein that displays a number of alternative splice variants. In Old World monkeys, apes and humans one of these variants is extended by a retroprocessed...
Search relevance: 57.73 | Views last month: 1 -
Background: Germ-cell nuclear factor (GCNF, NR6AI) is an orphan nuclear receptor. Its expression pattern suggests it functions during embryogenesis, in the placenta and in germ-cell...
Search relevance: 53.09 | Views last month: 0
