Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.D182H
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ADSL

NM_000026.4:p.D182H

Associated Papers

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

Lin L et al.

Prenatal Diagnosis, 2024

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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."