Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.V141A
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ASS1

NM_054012.4:p.V141A

Associated Papers

Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.

Xiong M et al.

Frontiers in Pediatrics, 2022

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.

Lin Y et al.

Bmc Medical Genetics, 2019

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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."