Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.A316T
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GCDH

NM_000159.4:p.A316T

Associated Papers

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 2022

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.

Nachmanson D et al.

Bmc Medical Genomics, 2020

33208147 (PubMed )
Supplement: 12920_2020_820_MOESM2_ESM.xlsx › S8_DCIS_Mutations

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C et al.

Pediatric Research, 2000

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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."