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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAPSN
(N88K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
RAPSN
Single nucleotide variant
Congenital myasthenic syndrome 11
+3 more
GPathogenic/Likely pathogenic
RAPSN
Single nucleotide variant
Congenital myasthenic syndrome 11
+3 more
GPathogenic/Likely pathogenic
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