Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.K199K
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ADSL

NM_000026.4:p.K199K

Associated Papers

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Klapperich A et al.

Prenatal Diagnosis, 2026

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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."