Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S23Splc
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ENG

NM_001114753.3:p.S23Splc

Associated Papers

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

Normand EA et al.

Genome Medicine, 2018

30266093 (PubMed )
Supplement: 13073_2018_582_MOESM1_ESM.pdf
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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."