Publications:

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Scientific Reports

Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T

Publication Date: 2020-12-31

Variant appearance in text: MUC16: P207T

PubMed Link: 33384420

Variant Present in the following documents:

• 41598_2020_78370_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_Article_78370.pdf

View BVdb publication page

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: MUC16: Pro207Thr

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page