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EN
The murine alpha-myosin heavy chain promotor drives the cardiac-specific expression of the full-length 3.1 kb human nebulette cDNA containing the c.604G>A substitution in exon 7 resulting in a glycine to arginine change at codon 202 (G202R). This is one variant identified in patients with dilated cardiomyopathy and endocardial fibroelastosis. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:242962)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
