Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.Q437*
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SHH

NM_000193.4:p.Q437*

Associated Papers

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2024

Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation.

Ribeiro LA et al.

American Journal of Medical Genetics. Part A, 2005

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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."