Varaico: Literature-Extracted Genetic Variants

Gene:ESCO2
Variant:p.H411_H412insA
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ESCO2

NM_001017420.3:p.H411_H412insA

Associated Papers

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B et al.

American Journal of Human Genetics, 2005

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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."