Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.M284_P285delFs
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ASL

NM_000048.4:p.M284_P285delFs

Associated Papers

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.

Lin Y et al.

Journal of Inherited Metabolic Disease, 2020

Molecular genetics of citrullinemia types I and II.

Woo HI et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."