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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS28
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RPS26
Single nucleotide variant
(splice acceptor variant)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
GPathogenic
RPS26
(R87*)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
+2 more
GPathogenic
RPS28
(M1V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
GPathogenic
TSR2
(E64G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
GPathogenic
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