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GATM c.485-300G>C
Variant ID: 15-45660758-C-G
NM_001482.2(
GATM
):c.485-300G>C
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:
Discovery of novel eGFR-associated multiple independent signals using a quasi-adaptive method.
Frontiers In Genetics
Ghasemi, Sahar S; Becker, Tim T; Grabe, Hans J HJ; Teumer, Alexander A
Publication Date: 2022
Variant appearance in text: rs1153855
PubMed Link:
36386835
Variant Present in the following documents:
Main text
fgene-13-997302.pdf
View BVdb publication page
Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans.
Human Molecular Genetics
Fatumo, Segun S; Chikowore, Tinashe T; Kalyesubula, Robert R; Nsubuga, Rebecca N RN; Asiki, Gershim G; Nashiru, Oyekanmi O; Seeley, Janet J; Crampin, Amelia C AC; Nitsch, Dorothea D; Smeeth, Liam L; Kaleebu, Pontiano P; Burgess, Stephen S; Nyirenda, Moffat M; Franceschini, Nora N; Morris, Andrew P AP; Tomlinson, Laurie L; Newton, Robert R
Publication Date: 2021-07-28
Variant appearance in text: rs1153855
PubMed Link:
33783510
Variant Present in the following documents:
Main text
ddab088.pdf
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: GATM: 485-300G>C; rs1153855
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page