Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.D382H
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IDS

NM_000202.8:p.D382H

Associated Papers

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Scott TM et al.

Journal of Medical Genetics, 2022

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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."