Varaico: Literature-Extracted Genetic Variants

Gene:OSBP
Variant:p.R108L
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OSBP

NM_002556.3:p.R108L

Associated Papers

ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann-Pick type C.

Lim CY et al.

Nature Cell Biology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."