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中文
这项复杂的变异涉及C外显子3个碱基的删除，D和E所有外显子的完全消除(共779bp)，以及一个5'剪切的LINE-1转座子(约2.4kb)的内含子插入。预测这将去除CAPN3结合位点的最后21个氨基酸。通过RT-PCR分析，检测到了部分LINE序列的低水平表达。(来源：J:74611)
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
