Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y188C
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PTEN

NM_000314.8:p.Y188C

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB et al.

Haematologica, 2018

Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.

Pastor V et al.

Leukemia, 2017

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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."