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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TTC7A
Variant:
p.Y300C
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TTC7A
NM_020458.4:p.Y300C
hg38:chr2:46994412 A>G
Frequencies & domains
Associated Papers
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Yang W et al.
Clinical Genetics,
2015
25534311 (PubMed
)
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