Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.P301S
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SHH

NM_000193.4:p.P301S

Associated Papers

Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes.

Verheyen A et al.

Stem Cell Reports, 2018

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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."