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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP295
(R55fs)
Microsatellite
(frameshift variant)
Seckel syndrome 11
GPathogenic
CEP295
(Q544*)
Single nucleotide variant
(nonsense)
Seckel syndrome 11
GPathogenic