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Thyroid
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Thyroid
Article . 2020 . Peer-reviewed
License: Mary Ann Liebert TDM
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Thyroid
Article . 2021
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The Thyrotropin Receptor Mutation Database Update

Authors: Alexandra, Stephenson; Lorraine, Lau; Markus, Eszlinger; Ralf, Paschke;

The Thyrotropin Receptor Mutation Database Update

Abstract

The thyrotropin receptor (TSHR) mutation database, consisting of all known TSHR mutations and their clinical characterizations, was established in 1999. The database contents are updated here with the same website (tsh-receptor-mutation-database.org). The new database contains 638 cases of TSHR mutations: 448 cases of gain of function mutations (7 novel mutations and 41 new cases for previously described mutations since its last update in 2012) and 190 cases of loss of function mutations (28 novel mutations and 31 new cases for previously described mutations since its last update in 2012). This database is continuously updated and allows for rapid validation of patient TSHR mutations causing hyper- or hypothyroidism or insensitivity to TSH.

Related Organizations
Keywords

Databases, Genetic, Mutation, Congenital Hypothyroidism, Humans, Receptors, Thyrotropin

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    popularity
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    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
19
Top 10%
Top 10%
Top 10%
bronze