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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NHS
Variant:
p.E903delFs
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NHS
NM_198270.4:p.E903delFs
hg38:chrX:17726874 AG>A
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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