Varaico: Literature-Extracted Genetic Variants

Gene:ESCO2
Variant:p.R558Splc
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ESCO2

NM_001017420.3:p.R558Splc

Associated Papers

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Schneeberger PE et al.

American Journal of Medical Genetics. Part A, 2020

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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."