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PC c.2606G>A ;(p.G869D)
Variant ID: 11-66617803-C-T
NM_001040716.1(
PC
):c.2606G>A;(p.G869D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.
Jimd Reports
Ostergaard, Elsebet E; Duno, Morten M; Møller, Lisbeth Birk LB; Kalkanoglu-Sivri, H Serap HS; Dursun, Ali A; Aliefendioglu, Didem D; Leth, Helle H; Dahl, Marianne M; Christensen, Ernst E; Wibrand, Flemming F
Publication Date: 2013
Variant appearance in text: PC: 2606G>A; Gly869Asp
PubMed Link:
23430542
Variant Present in the following documents:
Main text
View BVdb publication page