Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N212Splc
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PTEN

NM_000314.8:p.N212Splc

Associated Papers

Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Yakubov E et al.

Oncoscience, 2016

27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf

PTEN in colorectal cancer: a report on two Cowden syndrome patients.

Kersseboom R et al.

Clinical Genetics, 2012

Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.

Boccone L et al.

American Journal of Medical Genetics. Part A, 2008

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Lachlan KL et al.

Journal of Medical Genetics, 2007

Sensitivity and predictive value of criteria for p53 germline mutation screening.

Chompret A et al.

Journal of Medical Genetics, 2001

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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."