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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KBTBD13
(R188H)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
+1 more
GUncertain significance
KBTBD13
(S389R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance