Varaico: Literature-Extracted Genetic Variants

Gene:ESCO2
Variant:p.D292fs
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ESCO2

NM_001017420.3:p.D292fs

Associated Papers

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.

da Costa Almeida CB et al.

Journal of Pediatric Genetics, 2020

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB et al.

Bmc Cancer, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."