Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D109_Q110insFs
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PTEN

NM_000314.8:p.D109_Q110insFs

Associated Papers

Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Ji JH et al.

Npj Breast Cancer, 2022

35173185 (PubMed )
Supplement: 41523_2022_384_MOESM1_ESM.pdf

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW et al.

Autism Research : Official Journal of the International Society for Autism Research, 2018

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