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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13B
(S1516fs +1 more)
Deletion
(frameshift variant)
Progressive visual loss
+9 more
GPathogenic
VPS13B
(Q3772* +1 more)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic