CP c.1441_1444del ;(p.R481Sfs*44)

Variant ID: 3-148917556-AATCT-A

NM_000096.3(CP):c.1441_1444del;(p.R481Sfs*44)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomic analysis identifies masqueraders of full-term cerebral palsy.

Annals Of Clinical And Translational Neurology
Takezawa, Yusuke Y; Kikuchi, Atsuo A; Haginoya, Kazuhiro K; Niihori, Tetsuya T; Numata-Uematsu, Yurika Y; Inui, Takehiko T; Yamamura-Suzuki, Saeko S; Miyabayashi, Takuya T; Anzai, Mai M; Suzuki-Muromoto, Sato S; Okubo, Yukimune Y; Endo, Wakaba W; Togashi, Noriko N; Kobayashi, Yasuko Y; Onuma, Akira A; Funayama, Ryo R; Shirota, Matsuyuki M; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S
Publication Date: 2018-05

Variant appearance in text: CP: 1441_1444del
PubMed Link: 29761117
Variant Present in the following documents:
  • ACN3-5-538-s001.xlsx, sheet 1
View BVdb publication page