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SMN1 c.6G>C ;(p.A2=)
Variant ID: 5-70220936-G-C
NM_000344.3(
SMN1
):c.6G>C;(p.A2=)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Effect of an Auditory Temporal Training Program on Speech Fluency of Children with Developmental Stuttering.
Iranian Journal Of Child Neurology
Farazi, Morteza M; Hosseini Dastgerdi, Zahra Z; Lotfi, Yones Y; Moossavi, Abdollah A; Bakhshi, Enayatollah E
Publication Date: 2023
Variant appearance in text: SMA: a2=
PubMed Link:
36721835
Variant Present in the following documents:
ijcn-17-39.pdf
View BVdb publication page
An integrated device for fast and sensitive immunosuppressant detection.
Analytical And Bioanalytical Chemistry
Tombelli, Sara S; Trono, Cosimo C; Berneschi, Simone S; Berrettoni, Chiara C; Giannetti, Ambra A; Bernini, Romeo R; Persichetti, Gianluca G; Testa, Genni G; Orellana, Guillermo G; Salis, Francesca F; Weber, Susanne S; Luppa, Peter B PB; Porro, Giampiero G; Quarto, Giovanna G; Schubert, Markus M; Berner, Marcel M; Freitas, Paulo P PP; Cardoso, Susana S; Franco, Fernando F; Silverio, Vânia V; Lopez-Martinez, Maria M; Hilbig, Urs U; Freudenberger, Kathrin K; Gauglitz, Günter G; Becker, Holger H; Gärtner, Claudia C; O'Connell, Mark T MT; Baldini, Francesco F
Publication Date: 2022-04
Variant appearance in text: SMA: A2=
PubMed Link:
34936009
Variant Present in the following documents:
216_2021_Article_3847.pdf
View BVdb publication page
Effective connectivity underlying reward-based executive control.
Human Brain Mapping
Hippmann, Bernadette B; Tzvi, Elinor E; Göttlich, Martin M; Weiblen, Ronja R; Münte, Thomas F TF; Jessen, Sarah S
Publication Date: 2021-10-01
Variant appearance in text: SMA: A2=
PubMed Link:
34173997
Variant Present in the following documents:
HBM-42-4555.pdf
View BVdb publication page
Handedness and effective connectivity of the motor system.
Neuroimage
Pool, Eva-Maria EM; Rehme, Anne K AK; Fink, Gereon R GR; Eickhoff, Simon B SB; Grefkes, Christian C
Publication Date: 2014-10-01
Variant appearance in text: SMA: A2=
PubMed Link:
24862079
Variant Present in the following documents:
Main text
View BVdb publication page
Motor function deficits in schizophrenia: an fMRI and VBM study.
Neuroradiology
Singh, Sadhana S; Goyal, Satnam S; Modi, Shilpi S; Kumar, Pawan P; Singh, Namita N; Bhatia, Triptish T; Deshpande, Smita N SN; Khushu, Subash S
Publication Date: 2014-05
Variant appearance in text: SMA: A2=
PubMed Link:
24562867
Variant Present in the following documents:
Main text
View BVdb publication page
Uncluttered single-image visualization of the abdominal aortic vessel tree: method and evaluation.
Medical Physics
Won, Joong-Ho JH; Rosenberg, Jarrett J; Rubin, Geoffrey D GD; Napel, Sandy S
Publication Date: 2009-11
Variant appearance in text: SMA: A2=
PubMed Link:
19994535
Variant Present in the following documents:
Main text
View BVdb publication page