Varaico: Literature-Extracted Genetic Variants

Gene:GFPT1
Variant:p.K236*
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GFPT1

NM_001244710.2:p.K236*

Associated Papers

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Kim MJ et al.

Annals of Laboratory Medicine, 2023

36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH et al.

Journal of Medical Genetics, 2015

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