Varaico: Literature-Extracted Genetic Variants

Gene:TBX3
Variant:p.K273*
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TBX3

NM_005996.4:p.K273*

Associated Papers

Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.

Shi X et al.

Science Advances, 2022

The roles and regulation of TBX3 in development and disease.

Khan SF et al.

Gene, 2020

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Galazzi E et al.

Endocrine Connections, 2018

30550377 (PubMed )
Supplement: supplementary_table_3.pdf

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.

Sasaki G et al.

American Journal of Medical Genetics, 2002

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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."