Varaico: Literature-Extracted Genetic Variants

Gene:TSHB
Variant:p.E32K
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TSHB

NM_000549.5:p.E32K

Associated Papers

Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.

Kaplan AI et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Sanna A et al.

Pigment Cell & Melanoma Research, 2020

31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3

Recent advances in research on isolated congenital central hypothyroidism.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C et al.

European Journal of Endocrinology, 2018

A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.

Sun J et al.

Molecular Medicine Reports, 2018

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.

Özhan B et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

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