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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KLHL7
Variant:
p.E181K
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KLHL7
NM_001031710.3:p.E181K
hg38:chr7:23140867 G>A
Frequencies & domains
Associated Papers
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision,
2012
22736939 (PubMed
)
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