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: GC: 1029dup

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: GC: 1030dupG

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: GC: 1029dupG

PubMed Link: 25236789

Variant Present in the following documents:

• 13023_2014_Article_140.pdf

View BVdb publication page