Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.L452P
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TSHR

NM_000369.5:p.L452P

Associated Papers

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Li L et al.

Endocrine, 2023

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.

Zdraveska N et al.

Frontiers in Endocrinology, 2020

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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."