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The complete human transthryretin gene was reconstructed using fragments from recombinant plasmids pPATH4 and pPATE1. The gene product has a substitution of methionine for valine at amino acid position 30. The insertion in line 14 appears to contain 6 copies. This line also displays a developmental phenotype. (J:9303, J:92524)
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 |
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References Literature
Title
PMID
Journal
Year
IF
