Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.P341S
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GATM

NM_001482.3:p.P341S

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

Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.

Ragate DC et al.

Journal of Bone and Mineral 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."