Publications:

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Cancers

Mellid, Sara S; Coloma, Javier J; Calsina, Bruna B; Monteagudo, María M; Roldán-Romero, Juan M JM; Santos, María M; Leandro-García, Luis J LJ; Lanillos, Javier J; Martínez-Montes, Ángel M ÁM; Rodríguez-Antona, Cristina C; Montero-Conde, Cristina C; Martínez-López, Joaquín J; Ayala, Rosa R; Matias-Guiu, Xavier X; Robledo, Mercedes M; Cascón, Alberto A

Publication Date: 2020-11-09

Variant appearance in text: DNMT3A: 1115T>C; Val372Ala; rs773722655

PubMed Link: 33182397

Variant Present in the following documents:

• cancers-12-03304-s001.pdf

View BVdb publication page

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 1115T>C; Val372Ala

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 8

View BVdb publication page