Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.R528C
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TSHR

NM_000369.5:p.R528C

Associated Papers

Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

Kara C et al.

European Thyroid Journal, 2023

36913313 (PubMed )
Supplement: supplementary_table_1.pdf

Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism.

Qiu YL et al.

Endocrine Research, 2016

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels
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