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rs137852633(C;C)
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common in clinvar
Is a
genotype
of
rs137852633
Gene
GCH1
Chromosome
14
Position
54,845,799
mentioned
by
Magnitude
0
Repute
Good
Geno
Mag
Summary
(C;C)
0
common in clinvar
(C;G)
3
Carrier of a dopa-responsive dystonia mutation
(G;G)
4
dystonia due to autosomal recessive GCH1 mutation
Category
:
Is a genotype
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