Varaico: Literature-Extracted Genetic Variants

Gene:TSHB
Variant:p.R54R
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TSHB

NM_000549.5:p.R54R

Associated Papers

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

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

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

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."