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A tandem duplication containing the last 279 bp of intron 4, all 83 bp of exon 5 and the first 175 bp of intron 5 created a premature stop codon at the junction between the two copies of exon 5 (F187X). The predicted protein product lacks the 262 residues from the C-terminus of the 449 residuefull-length protein. (J:137595)
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
