GAA c.247G>C ;(p.D83H)

Variant ID: 17-78078632-G-C

NM_000152.3(GAA):c.247G>C;(p.D83H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: GAA: 247G>C
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
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First characterization of fluoroquinolone resistance in Streptococcus suis.

Antimicrobial Agents And Chemotherapy
Escudero, Jose Antonio JA; San Millan, Alvaro A; Catalan, Ana A; de la Campa, Adela G AG; Rivero, Estefania E; Lopez, Gema G; Dominguez, Lucas L; Moreno, Miguel Angel MA; Gonzalez-Zorn, Bruno B
Publication Date: 2007-02

Variant appearance in text: GAA: D83H
PubMed Link: 17116660
Variant Present in the following documents:
  • Main text
View BVdb publication page