GLA c.722G>A ;(p.S241N)

Variant ID: X-100653852-C-T

NM_000169.2(GLA):c.722G>A;(p.S241N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Journal Of The American Heart Association
Smith, Emily E; Thompson, Paul D PD; Burke-Martindale, Carolyn C; Weissler-Snir, Adaya A
Publication Date: 2022-05-03

Variant appearance in text: GLA: 722G>A
PubMed Link: 35470680
Variant Present in the following documents:
  • JAH3-11-e024501.pdf
  • JAH3-11-e024501-s001.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: S241N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Enhancing and shaping the immunogenicity of native-like HIV-1 envelope trimers with a two-component protein nanoparticle.

Nature Communications
Brouwer, Philip J M PJM; Antanasijevic, Aleksandar A; Berndsen, Zachary Z; Yasmeen, Anila A; Fiala, Brooke B; Bijl, Tom P L TPL; Bontjer, Ilja I; Bale, Jacob B JB; Sheffler, William W; Allen, Joel D JD; Schorcht, Anna A; Burger, Judith A JA; Camacho, Miguel M; Ellis, Daniel D; Cottrell, Christopher A CA; Behrens, Anna-Janina AJ; Catalano, Marco M; Del Moral-Sánchez, Iván I; Ketas, Thomas J TJ; LaBranche, Celia C; van Gils, Marit J MJ; Sliepen, Kwinten K; Stewart, Lance J LJ; Crispin, Max M; Montefiori, David C DC; Baker, David D; Moore, John P JP; Klasse, Per Johan PJ; Ward, Andrew B AB; King, Neil P NP; Sanders, Rogier W RW
Publication Date: 2019-09-19

Variant appearance in text: GLA: S241N
PubMed Link: 31537780
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12080.pdf
View BVdb publication page



Structural and immunologic correlates of chemically stabilized HIV-1 envelope glycoproteins.

Plos Pathogens
Schiffner, Torben T; Pallesen, Jesper J; Russell, Rebecca A RA; Dodd, Jonathan J; de Val, Natalia N; LaBranche, Celia C CC; Montefiori, David D; Tomaras, Georgia D GD; Shen, Xiaoying X; Harris, Scarlett L SL; Moghaddam, Amin E AE; Kalyuzhniy, Oleksandr O; Sanders, Rogier W RW; McCoy, Laura E LE; Moore, John P JP; Ward, Andrew B AB; Sattentau, Quentin J QJ
Publication Date: 2018-05

Variant appearance in text: GLA: S241N
PubMed Link: 29746590
Variant Present in the following documents:
  • Main text
  • ppat.1006986.pdf
View BVdb publication page