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 24'
Exon/Intron
1 - 2 of 2
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2944
c.2944_2947del
p.Pro982Thrfs*50
Deletion
Exon 24
1
1
2999
c.2999T>C
p.Phe1000Ser
Missense
Exon 24
1
1
1 - 2 of 2
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Primary Mutation Type Distribution