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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
C2
Variant:
p.R283_I284Splc
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C2
NM_000063.6:p.R283_I284Splc
hg38:chr6:31935921 A>G
Frequencies & domains
Associated Papers
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Cox TC et al.
Human Molecular Genetics,
2000
11030761 (PubMed
)
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