alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Exon 16'
Exon/Intron
1 - 3 of 3
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1929
c.1929G>A
p.Trp643*
Nonsense
Exon 16
1
1
2006
c.2006C>T
p.Pro669Leu
Benign
Exon 16
2013
c.2013delT
p.Val672*
Deletion
Exon 16
1
2
1 - 3 of 3
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Primary Mutation Type Distribution