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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESCO2

Variant:p.T371fs

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ESCO2

NM_001017420.3:p.T371fs

hg38:chr8:27787982 ACA>N

Associated Papers

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

Sezer A et al.

European Journal of Medical Genetics, 2019

30590172 (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."