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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862570, RPL27
(L14V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 16
GUncertain significance
RPL27
(R135W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RPL27
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RPL27, LOC126862570
Single nucleotide variant
(5 prime UTR variant +1 more)
Diamond-Blackfan anemia 16
GPathogenic
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