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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CLN6
Variant:
p.K99_L100Splc
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CLN6
NM_017882.3:p.K99_L100Splc
hg38:chr15:68214287 T>C
Frequencies & domains
Associated Papers
RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics.
Ren J et al.
Human Mutation,
2026
41523913 (PubMed
)
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