Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.A729fs
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GLDC

NM_000170.3:p.A729fs

Associated Papers

[Responses to a reader's question on the article "Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous"].

Unknown Author

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review.

Cao Y et al.

Frontiers in Pediatrics, 2021

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

26179960 (PubMed )
Supplement: ANA-78-606-s001.pdf
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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."