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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SPRED1
Variant:
p.S304_P305insA
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SPRED1
NM_152594.3:p.S304_P305insA
hg38:chr15:38351239 T>TNNN
Frequencies & domains
Associated Papers
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H et al.
Nature Genetics,
2007
17704776 (PubMed
)
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