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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AHI1
Variant:
p.L1059delFs
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AHI1
NM_001134831.2:p.L1059delFs
hg38:chr6:135323311 TA>T
Frequencies & domains
Associated Papers
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM et al.
Nature Genetics,
2006
16682970 (PubMed
)
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