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2021 ◽  
Vol 42 ◽  
pp. A419-A420
Author(s):  
J. Sebbar ◽  
H. Gil ◽  
N. Méaux-Ruault ◽  
A. Pastissier ◽  
J. Lodovichetti ◽  
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Keyword(s):  
Gain Of Function ◽  
Diagnostic Tardif

STAT3-gain of function mutation as a cause of severe bronchiectasis and multi-organ autoimmunity; A case report

Pneumologie ◽  
2016 ◽  
Vol 70 (10) ◽  
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T Khoury ◽  
R Kuint ◽  
V Molho-Pessach ◽  
Y Ramot ◽  
A Abu Rmeileh ◽  
...  
Keyword(s):  
Case Report ◽  
Gain Of Function

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein [alpha] 11 mutations causing autosomal dominant hypocalcaemia type 2

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Valerie Babinsky ◽  
Fadil Hannan ◽  
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Sarah Howles ◽  
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G Protein ◽  
Autosomal Dominant ◽  
Gain Of Function

Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

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Barbara Ciolka ◽  
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Keyword(s):  
Thyroid Carcinoma ◽  
Follicular Thyroid Carcinoma ◽  
Thyrotropin Receptor ◽  
Gain Of Function
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