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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFB11
(R124fs +1 more)
Deletion
(frameshift variant)
Linear skin defects with multiple congenital anomalies 3
GPathogenic
NDUFB11
(R88*)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 1
+3 more
GPathogenic