ABCA4 c.634C>A ;(p.R212S)

Variant ID: 1-94564484-G-T

NM_000350.2(ABCA4):c.634C>A;(p.R212S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

International Journal Of Molecular Sciences
Daci, Armond A; Bozalija, Adnan A; Jashari, Fisnik F; Krasniqi, Shaip S
Publication Date: 2018-01-05

Variant appearance in text: rs61750200
PubMed Link: 29303961
Variant Present in the following documents:
  • Main text
  • ijms-19-00122.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs61750200
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Meta Gene
Tsipi, Maria M; Tzetis, Maria M; Kosma, Konstantina K; Moschos, Marilita M; Braoudaki, Maria M; Poulou, Myrto M; Kanavakis, Emmanuel E; Kitsiou-Tzeli, Sofia S
Publication Date: 2016-06

Variant appearance in text: rs61750200
PubMed Link: 27014590
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page