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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FLVCR2
Variant:
p.M1T
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FLVCR2
NM_017791.3:p.M1T
hg38:chr14:75578974 T>C
Frequencies & domains
Associated Papers
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
Lalonde E et al.
Human Mutation,
2010
20518025 (PubMed
)
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