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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PHOX2B
Variant:
p.A247_A251ins1
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PHOX2B
NM_003924.4:p.A247_A251ins1
hg38:chr4:41745999 C>CGCCGCTGCCGCG
Frequencies & domains
Associated Papers
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Trochet D et al.
Human Mutation,
2008
18407552 (PubMed
)
Select a paper to view details