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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXT2
Variant:
p.P78fs
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EXT2
NM_207122.2:p.P78fs
hg38:chr11:44107944 C>CN
Frequencies & domains
Associated Papers
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing,
2008
18976157 (PubMed
)
Select a paper to view details