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GGA3 c.201+89C>A
Variant ID: 17-73242501-G-T
NM_138619.2(
GGA3
):c.201+89C>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: rs2242229
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: rs2242229
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Identification of Genes Whose Expression Profile Is Associated with Non-Progression towards AIDS Using eQTLs.
Plos One
Spadoni, Jean-Louis JL; Rucart, Pierre P; Le Clerc, Sigrid S; van Manen, Daniëlle D; Coulonges, Cédric C; Ulveling, Damien D; Laville, Vincent V; Labib, Taoufik T; Taing, Lieng L; Delaneau, Olivier O; Montes, Matthieu M; Schuitemaker, Hanneke H; Noirel, Josselin J; Zagury, Jean-François JF
Publication Date: 2015
Variant appearance in text: rs2242229
PubMed Link:
26367535
Variant Present in the following documents:
Main text
pone.0136989.pdf
View BVdb publication page