LRP1 c.11930C>A ;(p.S3977*)

Variant ID: 12-57601891-C-A

NM_002332.2(LRP1):c.11930C>A;(p.S3977*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg
Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM
Publication Date: 2021-08

Variant appearance in text: rs142650905
PubMed Link: 33776059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg
Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM
Publication Date: 2021-08

Variant appearance in text: rs142650905
PubMed Link: 33776059
Variant Present in the following documents:
  • Main text
View BVdb publication page