U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from PubMed

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Infantile convulsions and choreoathetosis
+12 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(Q250*)
Single nucleotide variant
(nonsense)
Episodic kinesigenic dyskinesia 1
GPathogenic