Publications:

Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study

Turkish Journal Of Medical Sciences

Erdem, Haktan Bağiş HB; Bahsi, Taha T

Publication Date: 2020-06-23

Variant appearance in text: ATM: 7082T>C; rs1169558907

PubMed Link: 32283892

Variant Present in the following documents:

• Main text
• turkjmedsci-50-1015.pdf

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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Frontiers In Immunology

Al-Herz, Waleed W; Chou, Janet J; Delmonte, Ottavia Maria OM; Massaad, Michel J MJ; Bainter, Wayne W; Castagnoli, Riccardo R; Klein, Christoph C; Bryceson, Yenan T YT; Geha, Raif S RS; Notarangelo, Luigi D LD

Publication Date: 2018

Variant appearance in text: ATM: 7082T>C

PubMed Link: 30697212

Variant Present in the following documents:

• Main text
• fimmu-09-03146.pdf

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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: ATM: 7082T>C; Leu2361Pro

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s8.xls, sheet 7

View BVdb publication page