Publications:

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: HEATR4: R216X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Plos Genetics

Alsalem, Ahmed B AB; Halees, Anason S AS; Anazi, Shamsa S; Alshamekh, Shomoukh S; Alkuraya, Fowzan S FS

Publication Date: 2013

Variant appearance in text: rs149734041

PubMed Link: 24367280

Variant Present in the following documents:

• pgen.1004030.s004.xlsx, sheet 1

View BVdb publication page