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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TTC8
Variant:
p.Q76*
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TTC8
NM_001288781.1:p.Q76*
hg38:chr14:88839563 C>T
Frequencies & domains
Associated Papers
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient.
Sato S et al.
Human Genome Variation,
2019
30886724 (PubMed
)
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