SI c.43_45delinsATG ;(p.V15M)

Variant ID: 3-164793756-GAC-CAT

NM_001041.3(SI):c.43_45delinsATG;(p.V15M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Damaged fiber tracts of the nucleus basalis of Meynert in Parkinson's disease patients with visual hallucinations.

Scientific Reports
Hepp, Dagmar H DH; Foncke, Elisabeth M J EMJ; Berendse, Henk W HW; Wassenaar, Thomas M TM; Olde Dubbelink, Kim T E KTE; Groenewegen, Henk J HJ; D J van de Berg, Wilma W; Schoonheim, Menno M MM
Publication Date: 2017-08-31

Variant appearance in text: SI: V15M
PubMed Link: 28860465
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10146.pdf
View BVdb publication page



Quantification of Interactions between Dynamic Cellular Network Functionalities by Cascaded Layering.

Plos Computational Biology
Prescott, Thomas P TP; Lang, Moritz M; Papachristodoulou, Antonis A
Publication Date: 2015-05

Variant appearance in text: SI: V15m
PubMed Link: 25933116
Variant Present in the following documents:
  • pcbi.1004235.s001.pdf
View BVdb publication page



Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Achilli, Alessandro A; Olivieri, Anna A; Soares, Pedro P; Lancioni, Hovirag H; Hooshiar Kashani, Baharak B; Perego, Ugo A UA; Nergadze, Solomon G SG; Carossa, Valeria V; Santagostino, Marco M; Capomaccio, Stefano S; Felicetti, Michela M; Al-Achkar, Walid W; Penedo, M Cecilia T MC; Verini-Supplizi, Andrea A; Houshmand, Massoud M; Woodward, Scott R SR; Semino, Ornella O; Silvestrelli, Maurizio M; Giulotto, Elena E; Pereira, Luísa L; Bandelt, Hans-Jürgen HJ; Torroni, Antonio A
Publication Date: 2012-02-14

Variant appearance in text: SI: V15M
PubMed Link: 22308342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Human Mutation
Köhler, Birgit B; Lin, Lin L; Ferraz-de-Souza, Bruno B; Wieacker, Peter P; Heidemann, Peter P; Schröder, Vanessa V; Biebermann, Heike H; Schnabel, Dirk D; Grüters, Annette A; Achermann, John C JC
Publication Date: 2008-01

Variant appearance in text: SI: V15M
PubMed Link: 17694559
Variant Present in the following documents:
  • humu0029-0059.pdf
View BVdb publication page