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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RCBTB1
(H325Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
CUL7
(R1445* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic