Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.K103*
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SHH

NM_000193.4:p.K103*

Associated Papers

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D et al.

Human Molecular Genetics, 2015

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E et al.

The Journal of Biological Chemistry, 2004

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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."