Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 1 |
2011 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.
Li FY, et al.
Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.
Hum Mutat. 2010.
PMID: 20574985
Item in Clipboard
Functional analysis of pharmacogenetic variants of human organic cation/carnitine transporter 2 (hOCTN2) identified in Singaporean populations.
Toh DS, Murray M, Pern Tan K, Mulay V, Grewal T, Lee EJ, Zhou F.
Toh DS, et al.
Biochem Pharmacol. 2011 Dec 1;82(11):1692-9. doi: 10.1016/j.bcp.2011.08.008. Epub 2011 Aug 16.
Biochem Pharmacol. 2011.
PMID: 21864509
Item in Clipboard
Cite
Cite