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中文
这个在匹兹堡大学进行的筛选中分离出来的突变，其分子变异是cDNA(NM_008542)第4外显子第982位的A被T替换，导致了K328位置的终止密码子(p.K328*)。在寻找致病突变时，还检测到了额外的附带突变Smad6b2b390Clo，可能存在于携带这个突变的库存中。
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
