Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N340H
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PTEN

NM_000314.8:p.N340H

Associated Papers

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Dawood M et al.

Genome Medicine, 2024

39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

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