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中文
这种变异涉及到从2号外显子中间到5号内含子末端的一个缺失，伴随一个3个碱基的插入。这种改变导致了5号外显子前半部分和最后一个外显子的框内融合，从而丧失了LAMP5蛋白的大部分，除了信号肽部分。(来源：J:291365)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
