[Clinical features and genetic testing of a child with hepatic failure syndrome type 2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.

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关键词

Infantile liver failure syndrome type 2,Next generation sequencing,NBAS gene

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