Anne-Lise Lecoq and colleagues analyse GPR101 point mutations to know whether these mutations are associated with other histological types of pituitary adenoma. They screened the entire GPR101 and AIP coding sequence for germline mutations in patients with sporadic pituitary adenomas of all histotypes. They showed that germline GPR101 mutations are very rare in patients with sporadic pituitary adenomas of various histotypes.
Lecoq, Anne-Lise et al. European Journal of Endocrinology.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand