Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D147A
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SHH

NM_000193.4:p.D147A

Associated Papers

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E et al.

The Journal of Biological Chemistry, 2004

Functional analysis of novel sonic hedgehog gene mutations identified in basal cell carcinomas from xeroderma pigmentosum patients.

Couvé-Privat S et al.

Cancer Research, 2004

Zinc-dependent structural stability of human Sonic hedgehog.

Day ES et al.

Biochemistry, 1999

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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."