Publications:

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Frontiers In Genetics

Ghorbani, Fatemeh F; Alimohamed, Mohamed Z MZ; Vilacha, Juliana F JF; Van Dijk, Krista K KK; De Boer-Bergsma, Jelkje J; Fokkens, Michiel R MR; Lemmink, Henny H; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Groves, Matthew R MR; Verschuuren-Bemelmans, Corien C CC; Verbeek, Dineke S DS; Van Diemen, Cleo C CC; Westers, Helga H

Publication Date: 2022

Variant appearance in text: FAT1: 6808G>A; D2270N

PubMed Link: 35401678

Variant Present in the following documents:

• Main text
• fgene-13-782685.pdf

View BVdb publication page

Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

The Oncologist

Leung, Shuk On Annie SOA; Foley, Olivia O; Chapel, David D; Da Silva, Annacarolina A; Nucci, Marisa M; Muto, Michael G MG; Campos, Susana S

Publication Date: 2021-12

Variant appearance in text: FAT1: D2270N

PubMed Link: 34355460

Variant Present in the following documents:

• Main text

View BVdb publication page