Publications:

Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: APP: 1030G>A; A344T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Biology

Palheta, Helber Gonzales Almeida HGA; Gonçalves, Wanderson Gonçalves WG; Brito, Leonardo Miranda LM; Dos Santos, Arthur Ribeiro AR; Dos Reis Matsumoto, Marlon M; Ribeiro-Dos-Santos, Ândrea Â; de Araújo, Gilderlanio Santana GS

Publication Date: 2022-03-31

Variant appearance in text: APP: Ala344Thr; rs201045185

PubMed Link: 35453737

Variant Present in the following documents:

• biology-11-00538.pdf

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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: APP: 1030G>A; Ala344Thr

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: APP: A344T

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page