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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)

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Highlight for Query ‹Isolated central nervous system malformation medication

Desmosterolosis

Abstract

Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol.

It has been associated with 24-dehydrocholesterol reductase.