Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.M306I
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TACR3

NM_001059.3:p.M306I

Associated Papers

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Ettaki I et al.

Hgg Advances, 2025

39797402 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Francou B et al.

Plos One, 2011

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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."