Publications:

Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.

Frontiers In Genetics

Khandakji, Mohannad N MN; Mifsud, Borbala B

Publication Date: 2022

Variant appearance in text: TG: 1393del

PubMed Link: 36246618

Variant Present in the following documents:

• Table1.xlsx, sheet 3

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 1394delA; Lys465fs

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Journal Of Clinical Laboratory Analysis

Rodríguez Gutiérrez, Perla Graciela PG; González García, Juan Ramón JR; Castillo De León, Yolanda Alicia YA; Zárate Guerrero, Juan Rafael JR; Magaña Torres, María Teresa MT

Publication Date: 2021-03

Variant appearance in text: TG: 1392del

PubMed Link: 33258201

Variant Present in the following documents:

• JCLA-35-e23672.pdf

View BVdb publication page