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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CLRN1
Variant:
p.I168fs
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CLRN1
NM_174878.3:p.I168fs
hg38:chr3:150928131 A>AN
Frequencies & domains
Associated Papers
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision,
2009
19753315 (PubMed
)
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