Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.H72P
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DDC

NM_001082971.2:p.H72P

Associated Papers

A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.

Kumar SB et al.

Journal of Biomolecular Structure & Dynamics, 2025

38193892 (PubMed )
Supplement: supplement_1.xlsx › S1

Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.

Reischl-Hajiabadi AT et al.

Molecular Genetics and Metabolism, 2024

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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."