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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAZ1A, BRMS1L
+33 more
Copy number loss
Poor motor coordination
GPathogenic
KMT2B
(G1652D)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
GUncertain significance
KIF4A
(R518P)
Single nucleotide variant
(missense variant)
Poor motor coordination
+9 more
GUncertain significance
Translocation
Corpus callosum, agenesis of
+24 more
GUncertain significance
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