Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.W326C
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ADSL

NM_000026.4:p.W326C

Associated Papers

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Hu L et al.

Journal of Inherited Metabolic Disease, 2015

25778938 (PubMed )
Supplement: supplement_1.doc
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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."