Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant...

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Veröffentlicht in:	Human mutation 2018-11, Vol.39 (11), p.1581-1592
Hauptverfasser:	Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz‐Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis
Format:	Artikel
Sprache:	eng
Schlagworte:	Benign Cancer classification ClinGen criteria Databases, Genetic Genetic Testing Genetic Variation - genetics Genome, Human - genetics High-Throughput Nucleotide Sequencing Humans Laboratories PTEN PTEN Phosphohydrolase - genetics PTEN protein Software variant
Online-Zugang:	Volltext
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