Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.L146P
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PAFAH1B1

NM_000430.4:p.L146P

Associated Papers

The L279P mutation of nuclear distribution gene C (NudC) influences its chaperone activity and lissencephaly protein 1 (LIS1) stability.

Zhu XJ et al.

The Journal of Biological Chemistry, 2010

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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."