ENG c.1311G>A ;(p.R437=)

Variant ID: 9-130581901-C-T

NM_001114753.2(ENG):c.1311G>A;(p.R437=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31

Variant appearance in text: ENG: 1311G>A; Arg437=
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z
Publication Date: 2021-04-14

Variant appearance in text: ENG: 1311G>A; Arg437Arg
PubMed Link: 33919892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text: ENG: R437R
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page