alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Mutation = 'c.2436+5G>A'
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Benign Mutations
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Animal Model
Mutation
2
Benign Mutations, Animal Model
No data found.
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c.2436+5G>A , p.Asp786_Met812del27
Mutation Details
Mutation type
Splice
Localization
Intron 20
Number of Patients
1
Detected
1
References
Borgwardt et al. 2015
Patients w/ c.2436+5G>A / p.Asp786_Met812del27
no data found
Primary Mutation Type Distribution