Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 1295A>G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology

Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P

Publication Date: 2022

Variant appearance in text: TG: 1295A>G

PubMed Link: 36387175

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TG: 1295A>G

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: TG: 1295A>G

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 1295A>G; Gln432Arg

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis

Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD

Publication Date: 2017-04

Variant appearance in text: TG: 1295A>G

PubMed Link: 28166604

Variant Present in the following documents:

• Main text
• PD-37-350.pdf

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Impact of intracellular domain flexibility upon properties of activated human 5-HT3 receptors.

British Journal Of Pharmacology

Kozuska, J L JL; Paulsen, I M IM; Belfield, W J WJ; Martin, I L IL; Cole, D J DJ; Holt, A A; Dunn, S M J SM

Publication Date: 2014-04

Variant appearance in text: TG: Q432R

PubMed Link: 24283776

Variant Present in the following documents:

• bph0171-1617.pdf

View BVdb publication page

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