Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.S321fs
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FBP1

NM_000507.4:p.S321fs

Associated Papers

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

Sun H et al.

Frontiers in Genetics, 2020

33304389 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplemental_Table_3

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis.

Kato S et al.

The Tohoku Journal of Experimental Medicine, 2015

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