PIWIL2 c.-47+833C>A

Variant ID: 8-22133744-C-A

NM_018068.5(PIWIL2):c.-47+833C>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.

Stem Cell Research & Therapy
Wang, Xiaotong X; Li, Zili Z; Qu, Mengyuan M; Xiong, Chengliang C; Li, Honggang H
Publication Date: 2022-09-24

Variant appearance in text: rs13259097
PubMed Link: 36153567
Variant Present in the following documents:
  • Main text
  • 13287_2022_Article_3175.pdf
View BVdb publication page



Identification of Candidate Genes Associated with Susceptibility to Ovarian Clear Cell Adenocarcinoma Using cis-eQTL Analysis.

Journal Of Clinical Medicine
Kim, Jihye J; Chung, Joon-Yong JY; Hwang, Jae Ryoung JR; Lee, Yoo-Young YY; Kim, Tae-Joong TJ; Lee, Jeong-Won JW; Kim, Byoung-Gie BG; Bae, Duk-Soo DS; Choi, Chel Hun CH; Hewitt, Stephen M SM
Publication Date: 2020-04-16

Variant appearance in text: rs13259097
PubMed Link: 32316112
Variant Present in the following documents:
  • Main text
  • jcm-09-01137.pdf
View BVdb publication page