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T to A transversion at base pair 65,297,257 (v38) on chromosome 4, or base pair 173,084 in the GenBank genomic regionNC_000070.The mutation corresponds to residue 3,768 in the mRNA sequence NM_021362 within exon 13 of 22 total exons. The mutation results in a leucine to methionine substitution at position 1,134 (L1134M) in the PAPP-A protein. (J:274970)
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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References Literature
Title
PMID
Journal
Year
IF
