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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PRICKLE1
Variant:
p.R84L
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PRICKLE1
NM_153026.3:p.R84L
hg38:chr12:42469583 C>A
Frequencies & domains
Associated Papers
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Algahtani H et al.
Seizure,
2019
31035234 (PubMed
)
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