Varaico: Literature-Extracted Genetic Variants

Gene:AFP
Variant:p.I554insFs
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AFP

NM_001134.3:p.I554insFs

Associated Papers

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

Song YZ et al.

International Journal of Molecular Medicine, 2011

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.

Song YZ et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009

[Citrin deficiency is an important etiology for cholestatic liver disease in children].

Song YZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].

Song YZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006

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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."