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Exons 3-6 were deleted and replaced by a neomycin resistance gene. This produces a N-terminal deletion of the Ig domain C1 and the linker region between domains C0 and C1. The shortened deletion cardiac-specific variant (cMyBP-C) thus has a domain structure similar to that of skeletal variant (sMyBP-C). (J:264726)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
