Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.M164K
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TSHR

NM_000369.5:p.M164K

Associated Papers

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.

Yang R et al.

Frontiers in Genetics, 2021

34456971 (PubMed )
Supplement: Data_Sheet_2.PDF

Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

Wang F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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