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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ANTXR1
Variant:
p.Y495_P496insA
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ANTXR1
NM_032208.3:p.Y495_P496insA
hg38:chr2:69245273 T>TNNN
Frequencies & domains
Associated Papers
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics,
2017
28103792 (PubMed
)
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