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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIBAR1, RBM12B
(C263F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CIBAR1, RBM12B
(K229R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CIBAR1
(R132fs)
Microsatellite
(frameshift variant +1 more)
Polydactyly, postaxial, type A9
GLikely pathogenic
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