GUSB c.916C>T ;(p.Q306*)

Variant ID: 7-65440055-G-A

NM_000181.3(GUSB):c.916C>T;(p.Q306*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Biomedicines
Castells, Alba-Aina AA; Balada, Rafel R; Tristán-Noguero, Alba A; O'Callaghan, Mar M; Cortès-Saladelafont, Elisenda E; Pascual-Alonso, Ainhoa A; Garcia-Cazorla, Àngels À; Armstrong, Judith J; Alcántara, Soledad S
Publication Date: 2021-02-03

Variant appearance in text: GUSB: 916C>T
PubMed Link: 33546327
Variant Present in the following documents:
  • biomedicines-09-00148.pdf
View BVdb publication page



Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics
Need, Anna C AC; McEvoy, Joseph P JP; Gennarelli, Massimo M; Heinzen, Erin L EL; Ge, Dongliang D; Maia, Jessica M JM; Shianna, Kevin V KV; He, Min M; Cirulli, Elizabeth T ET; Gumbs, Curtis E CE; Zhao, Qian Q; Campbell, C Ryan CR; Hong, Linda L; Rosenquist, Peter P; Putkonen, Anu A; Hallikainen, Tero T; Repo-Tiihonen, Eila E; Tiihonen, Jari J; Levy, Deborah L DL; Meltzer, Herbert Y HY; Goldstein, David B DB
Publication Date: 2012-08-10

Variant appearance in text: GUSB: 916C>T
PubMed Link: 22863191
Variant Present in the following documents:
  • Main text
View BVdb publication page