Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.A194T
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GLDC

NM_000170.3:p.A194T

Associated Papers

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Xiao D et al.

Frontiers in Genetics, 2024

39076170 (PubMed )
Supplement: Table1.DOCX

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Farris J et al.

Plos Genetics, 2021

33524012 (PubMed )
Supplement: pgen.1009307.s004.xlsx › Sheet1
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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."