Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.T336A
Back to variants list

GATM

NM_001482.3:p.T336A

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

Association of Familial Fanconi Syndrome with a Novel GATM Variant.

Kudo H et al.

The Tohoku Journal of Experimental Medicine, 2023

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.

Seaby EG et al.

Clinical Genetics, 2023

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M et al.

Journal of the American Society of Nephrology : Jasn, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."