Publications:

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

Bmc Medical Genomics

Winkler, Izabela I; Miotła, Paweł P; Lejman, Monika M; Pietrzyk, Aleksandra A; Kacprzak, Magdalena M; Kubiak, Marcin M; Sobczyńska-Tomaszewska, Agnieszka A; Skrzypczak, Maciej M; Jaszczuk, Ilona I

Publication Date: 2021-05-18

Variant appearance in text: SMARCA4: Pro311Arg; rs759754994

PubMed Link: 34006278

Variant Present in the following documents:

• Main text
• 12920_2021_Article_980.pdf

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: P311R

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page