PIN1 c.271+78C>T

Variant ID: 19-9949402-C-T

NM_006221.3(PIN1):c.271+78C>T

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: rs2233683
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



PIN1 gene variants in Alzheimer's disease.

Bmc Medical Genetics
Maruszak, Aleksandra A; Safranow, Krzysztof K; Gustaw, Katarzyna K; Kijanowska-Haładyna, Beata B; Jakubowska, Katarzyna K; Olszewska, Maria M; Styczyńska, Maria M; Berdyński, Mariusz M; Tysarowski, Andrzej A; Chlubek, Dariusz D; Siedlecki, Janusz J; Barcikowska, Maria M; Zekanowski, Cezary C
Publication Date: 2009-11-12

Variant appearance in text: rs2233683
PubMed Link: 19909517
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-115.pdf
View BVdb publication page