Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.A263V
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SECISBP2

NM_024077.5:p.A263V

Associated Papers

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Persani L et al.

European Thyroid Journal, 2024

38963712 (PubMed )
Supplement: supplementary_table_1.pdf

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

Vlaeminck-Guillem V et al.

Presse Medicale (paris, France : 1983), 2015

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

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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."