KCTD7 c.861_863del ;(p.W288del)

Variant ID: 7-66104210-CATG-C

NM_153033.4(KCTD7):c.861_863del;(p.W288del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Journal Of Medical Genetics
Kousi, Maria M; Anttila, Verneri V; Schulz, Angela A; Calafato, Stella S; Jakkula, Eveliina E; Riesch, Erik E; Myllykangas, Liisa L; Kalimo, Hannu H; Topçu, Meral M; Gökben, Sarenur S; Alehan, Fusun F; Lemke, Johannes R JR; Alber, Michael M; Palotie, Aarno A; Kopra, Outi O; Lehesjoki, Anna-Elina AE
Publication Date: 2012-06

Variant appearance in text: KCTD7: 861_863delATG
PubMed Link: 22693283
Variant Present in the following documents:
  • Main text
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