Publications:

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Frontiers In Oncology

Borja, Nicholas A NA; Silva-Smith, Rachel R; Huang, Marilyn M; Parekh, Dipen J DJ; Sussman, Daniel D; Tekin, Mustafa M

Publication Date: 2023

Variant appearance in text: ATM: 3669_3670insTAG; Leu1224*

PubMed Link: 36865800

Variant Present in the following documents:

• DataSheet_1.pdf

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: ATM: 3669_3670insTAG

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.

Cancer

Maynard, Hannah H; Stadler, Zsofia K ZK; Berger, Michael F MF; Solit, David B DB; Ly, Michele M; Lowery, Maeve A MA; Mandelker, Diana D; Zhang, Liying L; Jordan, Emmett E; El Dika, Imane I; Kemel, Yelena Y; Ladanyi, Marc M; Robson, Mark E ME; O'Reilly, Eileen M EM; Abou-Alfa, Ghassan K GK

Publication Date: 2020-01-01

Variant appearance in text: ATM: 3669_3670insTAG; Leu1224*

PubMed Link: 32012241

Variant Present in the following documents:

• Main text

View BVdb publication page