Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
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Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2.
Hum Mutat. 2013.
PMID: 24027063
Free PMC article.