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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
WDFY2
Variant:
p.L16M
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WDFY2
NM_052950.4:p.L16M
hg38:chr13:51584733 C>A
Frequencies & domains
Associated Papers
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
Ranta S et al.
Human Mutation,
2004
15024724 (PubMed
)
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