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EN
A single A to T transversion in a splice acceptor site of an 84-bp exon results in the use of a cryptic splice site located 7-bp into the exon and generates a 7-bp deletion with a premature truncation or skips the entire exon and creates an 84-bp internal deletion removing 28 amino acids. (J:53404)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
