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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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