Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.K52R
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AICDA

NM_020661.4:p.K52R

Associated Papers

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.

Li L et al.

Frontiers in Genetics, 2022

Mitochondrial deafness mutations reviewed.

Fischel-Ghodsian N

Human Mutation, 1999

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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."