Single nucleotide polymorphisms (SNPs) are the simplest and most frequent form of human DNA variation, also valuable as genetic markers of disease susceptibility. The most investigated SNPs are missense mutations resulting in residue substitutions in the protein. Here we propose SNPs&GO, an accurate
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Predictive clustering of POLG disease mutations into functional modules in the human mitochondrial replicase
β Scribed by Kaguni, Laurie S.; Farnum, Gregory A.; Nurminen, Anssi
- Book ID
- 125794936
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 51 KB
- Volume
- 1837
- Category
- Article
- ISSN
- 0005-2728
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Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that com