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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDRT15, CDRT3
+25 more
Deletion
Autosomal recessive Dejerine-Sottas syndrome
+2 more
GPathogenic
GH-LCR, SCN4A
(T704M)
Single nucleotide variant
(missense variant)
Sotos syndrome
+8 more
GPathogenic