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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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