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中文
Lrrc48基因的分子突变位置在染色体11的603,635,69号基因为（NM_029044，exon4：c.T266C：p.L89P）。这是一种替换为苯丙氨酸的错义突变。通过针对第89外显子的qRT-PCR分析，结果显示突变体的基因表达水平降低到野生型的34%（P值大于0.001，引用文献为J:199782和J:240195）。
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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References Literature
Title
PMID
Journal
Year
IF
