Publications:

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: 1074delT

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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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: TG: 1074delT

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Advances In Genomics And Genetics

Schussler, Edith E; Linkner, Rita V RV; Levitt, Jacob J; Mehta, Lakshmi L; Martignetti, John A JA; Oishi, Kimihiko K

Publication Date: 2018

Variant appearance in text: TG: 1074delT

PubMed Link: 30050362

Variant Present in the following documents:

• Main text
• nihms-978245.pdf

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