Publications:

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

Cancers

Azzollini, Jacopo J; Schiavello, Elisabetta E; Buttarelli, Francesca Romana FR; Clerici, Carlo Alfredo CA; Tizzoni, Laura L; Vecchi, Giovanna De G; Capra, Fabio F; Pisati, Federica F; Biassoni, Veronica V; Runza, Letterio L; Carrabba, Giorgio G; Giangaspero, Felice F; Massimino, Maura M; Pensotti, Valeria V; Manoukian, Siranoush S

Publication Date: 2020-09-03

Variant appearance in text: TP53: Ser183=

PubMed Link: 32899294

Variant Present in the following documents:

• Main text
• cancers-12-02503.pdf

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: TP53: 549A>G

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: S183S

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s008.xlsx, sheet 1

View BVdb publication page