Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.F72L
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ASS1

NM_054012.4:p.F72L

Associated Papers

Citrullinaemia type I: a common mutation in the Pacific Island population.

Glamuzina E et al.

Journal of Paediatrics and Child Health, 2011

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock DP et al.

American Journal of Medical Genetics. Part A, 2008

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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."