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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PRDM6
Variant:
p.L282L
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PRDM6
NM_001136239.4:p.L282L
hg38:chr5:123099907 G>A
Frequencies & domains
Associated Papers
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
De Luca A et al.
Human Mutation,
2004
15146469 (PubMed
)
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