PCSK9 c.159C>A ;(p.A53=)

Variant ID: 1-55505669-C-A

NM_174936.3(PCSK9):c.159C>A;(p.A53=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: PCSK9: A53A
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.

Translational Psychiatry
Tierney, Elaine E; Remaley, Alan T AT; Thurm, Audrey A; Jager, Leah R LR; Wassif, Christopher A CA; Kratz, Lisa E LE; Bailey-Wilson, Joan E JE; Bukelis, Irena I; Sarphare, Geeta G; Jung, Eun Sol ES; Brand, Boudewien B; Noah, Kelly K KK; Porter, Forbes D FD
Publication Date: 2021-09-09

Variant appearance in text: PCSK9: A53A
PubMed Link: 34504056
Variant Present in the following documents:
  • Main text
View BVdb publication page