Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.L137P
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PITX3

NM_005029.4:p.L137P

Associated Papers

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

Zhou YF et al.

Nature Communications, 2016

27725636 (PubMed )
Supplement: ncomms13082-s1.pdf
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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."