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Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation. (J:206668, J:222308)
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
