Publications:

Evaluating the cerebrospinal fluid ctDNA detection by next-generation sequencing in the diagnosis of meningeal Carcinomatosis.

Bmc Neurology

Zhao, Yue Y; He, Jun-Ying JY; Zou, Yue-Li YL; Guo, Xiao-Su XS; Cui, Jun-Zhao JZ; Guo, Li L; Bu, Hui H

Publication Date: 2019-12-19

Variant appearance in text: PTEN: K13Q

PubMed Link: 31856745

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1554.pdf

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 37A>C

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: K13Q

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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