Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.R128R
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IHH

NM_002181.4:p.R128R

Associated Papers

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Díaz-González F et al.

European Journal of Endocrinology, 2024

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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."