Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R218_S219Splc
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MEN1

NM_001370259.2:p.R218_S219Splc

Associated Papers

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Genetic mutations in sporadic pituitary adenomas--what to screen for?

Lecoq AL et al.

Nature Reviews. Endocrinology, 2015

[Genetic screening for mutations enables early diagnosis of pituitary adenomas].

Dal J et al.

Ugeskrift for Laeger, 2014

The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

Stratakis CA et al.

Clinical Genetics, 2010

An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein.

Drori-Herishanu L et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2009

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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."