Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V85Splc
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PTEN

NM_000314.8:p.V85Splc

Associated Papers

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM1_ESM.pdf

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features.

Alvarez K et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

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