alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Mutation = 'c.812_813dupTG'
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Benign Mutations
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Animal Model
Mutation
2
Benign Mutations, Animal Model
1 - 1 of 1
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
812
c.812_813dupTG
p.Leu272Cysfs*27
Duplication
Exon 6
1
2
1 - 1 of 1
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c.812_813dupTG, p.Leu272Cysfs*27
Mutation Details
Mutation type
Duplication
Localization
Exon 6
Number of Patients
1
Detected
2
References
Borgwardt et al. 2015
Patients w/ c.812_813dupTG / p.Leu272Cysfs*27
no data found
Primary Mutation Type Distribution