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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESCO2

Variant:p.A521fs

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ESCO2

NM_001017420.3:p.A521fs

hg38:chr8:27799604 G>GN

Associated Papers

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

He S et al.

Molecular Genetics & Genomic Medicine, 2023

37002187 (PubMed )

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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."