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SMN1 c.263_264delinsAA ;(p.S88*)
Variant ID: 5-70237325-CC-AA
NM_000344.3(
SMN1
):c.263_264delinsAA;(p.S88*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A lexical semantic hub for heteromodal naming in middle fusiform gyrus.
Brain : A Journal Of Neurology
Forseth, Kiefer James KJ; Kadipasaoglu, Cihan Mehmet CM; Conner, Christopher Richard CR; Hickok, Gregory G; Knight, Robert Thomas RT; Tandon, Nitin N
Publication Date: 2018-07-01
Variant appearance in text: SMA: S88X
PubMed Link:
29860298
Variant Present in the following documents:
Main text
View BVdb publication page
Closed-loop intracranial stimulation alters movement timing in humans.
Brain Stimulation
Moore, Bartlett D BD; Aron, Adam R AR; Tandon, Nitin N
Publication Date: 2018
Variant appearance in text: SMA: S88X
PubMed Link:
29598890
Variant Present in the following documents:
Main text
View BVdb publication page
Biodegradable scaffold with built-in vasculature for organ-on-a-chip engineering and direct surgical anastomosis.
Nature Materials
Zhang, Boyang B; Montgomery, Miles M; Chamberlain, M Dean MD; Ogawa, Shinichiro S; Korolj, Anastasia A; Pahnke, Aric A; Wells, Laura A LA; Massé, Stéphane S; Kim, Jihye J; Reis, Lewis L; Momen, Abdul A; Nunes, Sara S SS; Wheeler, Aaron R AR; Nanthakumar, Kumaraswamy K; Keller, Gordon G; Sefton, Michael V MV; Radisic, Milica M
Publication Date: 2016-06
Variant appearance in text: SMA: s88x
PubMed Link:
26950595
Variant Present in the following documents:
NIHMS753183-supplement-1.pdf
View BVdb publication page
Functional alterations in gut contractility after connexin36 ablation and evidence for gap junctions forming electrical synapses between nitrergic enteric neurons.
Febs Letters
Nagy, James Imre JI; Urena-Ramirez, Viridiana V; Ghia, Jean-Eric JE
Publication Date: 2014-04-17
Variant appearance in text: SMA: S88X
PubMed Link:
24548563
Variant Present in the following documents:
Main text
View BVdb publication page