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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KARS1
Variant:
p.A441_R442insTT
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KARS1
NM_005548.3:p.A441_R442insTT
hg38:chr16:75631185 C>CNNNNNN
Frequencies & domains
Associated Papers
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Zhou XL et al.
Human Mutation,
2017
28887846 (PubMed
)
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