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Whole exome sequencing has identified an A to T transversion at Chr 11:77984176 predicted to change amino acid 343 of NEK8 from valine to glutamic acid and an A to T transversion at Chr 11:102258914 predicted to change amino acid 46 of RUNDC3A from tyrosine to phenylalanine. (J:176116)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
