FBXL16 c.633+162C>A

Variant ID: 16-746611-G-T

NM_153350.3(FBXL16):c.633+162C>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs11861214
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Smoking and heart failure: a Mendelian randomization and mediation analysis.

Esc Heart Failure
Lu, Yunlong Y; Xu, Zhouming Z; Georgakis, Marios K MK; Wang, Zhen Z; Lin, Hefeng H; Zheng, Liangrong L
Publication Date: 2021-06

Variant appearance in text: rs11861214
PubMed Link: 33656795
Variant Present in the following documents:
  • EHF2-8-1954-s001.pdf
View BVdb publication page



Lifetime Smoking and Asthma: A Mendelian Randomization Study.

Frontiers In Genetics
Shen, Ming M; Liu, Xin X; Li, Guoqi G; Li, Zhun Z; Zhou, Hongyu H
Publication Date: 2020

Variant appearance in text: rs11861214
PubMed Link: 32903690
Variant Present in the following documents:
  • Main text
  • fgene-11-00769.pdf
View BVdb publication page