PTS c.225_226insA ;(p.L76Tfs*14)

Variant ID: 11-112101387-T-TA

NM_000317.2(PTS):c.225_226insA;(p.L76Tfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Orphanet Journal Of Rare Diseases
Mercimek-Mahmutoglu, Saadet S; Sidky, Sarah S; Hyland, Keith K; Patel, Jaina J; Donner, Elizabeth J EJ; Logan, William W; Mendoza-Londono, Roberto R; Moharir, Mahendranath M; Raiman, Julian J; Schulze, Andreas A; Siriwardena, Komudi K; Yoon, Grace G; Kyriakopoulou, Lianna L
Publication Date: 2015-02-08

Variant appearance in text: PTS: 225_225insA
PubMed Link: 25758715
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_234.pdf
View BVdb publication page