Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V85Splc
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PTEN

NM_000314.8:p.V85Splc

Associated Papers

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM10_ESM.xlsx › Fig3a

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

Celebi JT et al.

Human Genetics, 2000

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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."