Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.F296L
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GATM

NM_001482.3:p.F296L

Associated Papers

Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation.

Li CY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Association of Familial Fanconi Syndrome with a Novel GATM Variant.

Kudo H et al.

The Tohoku Journal of Experimental Medicine, 2023

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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."