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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HSPG2
Variant:
p.H3840Y
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HSPG2
NM_005529.7:p.H3840Y
hg38:chr1:21831259 G>A
Frequencies & domains
Associated Papers
Exome-based mutation screening in South African children with primary congenital glaucoma.
Carstens N et al.
Eye (london, England),
2023
35094026 (PubMed
)
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