Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A275T
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SDS

NM_006843.3:p.A275T

Associated Papers

Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.

Bisello G et al.

Protein Science : a Publication of the Protein Society, 2023

37466248 (PubMed )
Supplement: PRO-32-e4732-s002.docx

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

Montioli R et al.

Journal of Inherited Metabolic Disease, 2011

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

Gobin S et al.

The Journal of Biological Chemistry, 2003

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF et al.

Journal of Lipid Research, 2001

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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."