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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PSMB8
Variant:
p.Q125*
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PSMB8
NM_148919.4:p.Q125*
hg38:chr6:32842706 G>A
Frequencies & domains
Associated Papers
A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.
Jia T et al.
Bmc Medical Genetics,
2020
32513120 (PubMed
)
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