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NSF c.145_147delinsTTT ;(p.L49F)
Variant ID: 17-44704025-CTG-TTT
NM_006178.3(
NSF
):c.145_147delinsTTT;(p.L49F)
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:
Conformational change of erythroid alpha-spectrin at the tetramerization site upon binding beta-spectrin.
Protein Science : A Publication Of The Protein Society
Long, Fei F; McElheny, Dan D; Jiang, Shaokai S; Park, Sunghyouk S; Caffrey, Michael S MS; Fung, Leslie W-M LW
Publication Date: 2007-11
Variant appearance in text: NSF: L49F
PubMed Link:
17905835
Variant Present in the following documents:
Main text
View BVdb publication page