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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FBP1
Variant:
p.P189_A190Splc
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FBP1
NM_001127628.2:p.P189_A190Splc
hg38:chr9:94609920 C>T
Frequencies & domains
Associated Papers
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
Kılıç M et al.
Metabolic Brain Disease,
2019
31278438 (PubMed
)
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