Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.L939_H940insFs
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NBAS

NM_015909.4:p.L939_H940insFs

Associated Papers

[Clinical features and genetic analysis of three patients with Infantile liver failure syndrome type 2 due to variants of NBAS gene].

Li S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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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."