Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.M339T
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GCDH

NM_000159.4:p.M339T

Associated Papers

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Lin Y et al.

Scientific Reports, 2025

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

Zhou J et al.

Orphanet Journal of Rare Diseases, 2023

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Schuurmans IME et al.

Journal of Inherited Metabolic Disease, 2023

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

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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."