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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SRSF2
Variant:
p.Y115*
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SRSF2
NM_001195427.2:p.Y115*
hg38:chr17:76736816 G>T
Frequencies & domains
Associated Papers
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Schlang KJ et al.
Bmc Medical Genetics,
2008
18644145 (PubMed
)
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