Publications:

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Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

Frontiers In Neurology

Zhang, Hongwei H; Deng, Jie J; Wang, Xiaohui X; Chen, Chunhong C; Chen, Shuhua S; Dai, Lifang L; Fang, Fang F

Publication Date: 2023

Variant appearance in text: GC: 511delC

PubMed Link: 36937533

Variant Present in the following documents:

• fneur-14-1113747.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: GC: P171Lfs

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 3
• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 2

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The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-12

Variant appearance in text: GC: 512del

PubMed Link: 36068297

Variant Present in the following documents:

• 41397_2022_288_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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High-efficiency delivery of CRISPR-Cas9 by engineered probiotics enables precise microbiome editing.

Molecular Systems Biology

Neil, Kevin K; Allard, Nancy N; Roy, Patricia P; Grenier, Frédéric F; Menendez, Alfredo A; Burrus, Vincent V; Rodrigue, Sébastien S

Publication Date: 2021-10

Variant appearance in text: GC: 511delC

PubMed Link: 34665940

Variant Present in the following documents:

• MSB-17-e10335-s001.xlsx, sheet 3

View BVdb publication page

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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: 512delC; Pro171fs

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: GC: 512delC

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GC: 511delC

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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