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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GULP1
Variant:
p.P202H
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GULP1
NM_016315.4:p.P202H
hg38:chr2:188570116 C>A
Frequencies & domains
Associated Papers
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Garcia CK et al.
Science (new York, N.y.),
2001
11326085 (PubMed
)
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