Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1249A>G; Thr417Ala; rs863224556

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Identification and functional analysis of the SARS-COV-2 nucleocapsid protein.

Bmc Microbiology

Gao, Tianyi T; Gao, Yingdong Y; Liu, Xiangxiang X; Nie, Zhenlin Z; Sun, Huilin H; Lin, Kang K; Peng, Hongxin H; Wang, Shukui S

Publication Date: 2021-02-22

Variant appearance in text: ATM: T417A

PubMed Link: 33618668

Variant Present in the following documents:

• Main text
• 12866_2021_Article_2107.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 1249A>G; Thr417Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: ATM: T417A

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page