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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TNPO1
Variant:
p.E165Q
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TNPO1
NM_002270.4:p.E165Q
hg38:chr5:72865626 G>C
Frequencies & domains
Associated Papers
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation,
2016
26694549 (PubMed
)
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