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中文
这种突变发生在mRNA的2549位，由T变为A（NM_001360980.1；蛋白质对应NM_007462.3）。这导致了密码子850从编码亮氨酸变为终止密码子（p.Leu850*），使得预期的多肽被截断（J:830）。
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
