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Found 63 dataset(s) matching "Single nucleotide polymorphism".

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography
- Organization: U.S. Department of Health & Human Services
- Updated: 2025-09-06 | Harvested: September 06, 2025 at 05:40 AM
Background R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature...
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Screening of the
- Organization: U.S. Department of Health & Human Services
- Updated: 2025-09-06 | Harvested: September 06, 2025 at 04:59 AM
Background Intronic DNA sequences of the canine arrestin (SAG) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy...
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Cloning and characterisation of hAps1 and hAps2, human diadenosine polyphosphate-metabolising Nudix hydrolases
- Organization: U.S. Department of Health & Human Services
- Updated: 2025-09-06 | Harvested: September 06, 2025 at 08:39 AM
Background The human genome contains at least 18 genes for Nudix hydrolase enzymes. Many have similar functions to one another. In order to understand their roles in cell physiology,...
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