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250100.6
Home
Subject Details
Country
Palestine
HPO Terms
Motor deterioration
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Sex
Others
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001085427.2:c.465+1G>A
2
Metachromatic Leukodystrophy
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References
Heinisch et al. 1995
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