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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PSMD4
Variant:
p.E284K
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PSMD4
NM_002810.4:p.E284K
hg38:chr1:151266394 G>A
Frequencies & domains
Associated Papers
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Baux D et al.
Human Mutation,
2007
17405132 (PubMed
)
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