Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.V233L
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TSHR

NM_000369.5:p.V233L

Associated Papers

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Huang X et al.

Biomedical Reports, 2025

39720292 (PubMed )
Supplement: Supplementary_Data.pdf

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Fan X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."