Varaico: Literature-Extracted Genetic Variants

Gene:ZPLD1
Variant:p.P275A
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ZPLD1

NM_175056.2:p.P275A

Associated Papers

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Savasta S et al.

Journal of Pediatric Genetics, 2019

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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."