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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HSPG2
Variant:
p.E666_E667Splc
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HSPG2
NM_005529.7:p.E666_E667Splc
hg38:chr1:21880655 C>T
Frequencies & domains
Associated Papers
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dodé C et al.
Nature Genetics,
2003
12627230 (PubMed
)
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