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A transversion mutation (T to A) at nucleotide 362 resulted in an aspartic acid to glutamic acid substition. This mutation at codon 14 (D14E), in exon 1, is located just upstream of sequence encoding the Mad homology 1 domain. (J:80520)
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
