Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.Q456_V457Splc
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ADSL

NM_000026.4:p.Q456_V457Splc

Associated Papers

Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Mao X et al.

Scientific Reports, 2017

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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."