Publications:

The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution.

Bmc Cancer

Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Alonso Vence, Natalia N; Díaz Arias, José Ángel JÁ; Díaz Varela, Nicolás N; Pérez Encinas, Manuel Mateo MM; Allegue Toscano, Catarina C; Goiricelaya Seco, Elena María EM; Carracedo Álvarez, Ángel Á; Bello López, José Luis JL

Publication Date: 2019-05-29

Variant appearance in text: rs7270676

PubMed Link: 31142279

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5628.pdf

View BVdb publication page

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SEMG1: N402N; rs7270676

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: SEMG1: N402N

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