ABCA4 c.66+208G>A

Variant ID: 1-94586328-C-T

NM_000350.2(ABCA4):c.66+208G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative Ophthalmology & Visual Science
Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A
Publication Date: 2022-04-01

Variant appearance in text: rs3789451
PubMed Link: 35475888
Variant Present in the following documents:
  • Main text
  • iovs-63-4-20.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: ABCA4: 66+208G>A; rs3789451
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios.

Genetic Epidemiology
Li, Qing Q; Kim, Yoonhee Y; Suktitipat, Bhoom B; Hetmanski, Jacqueline B JB; Marazita, Mary L ML; Duggal, Priya P; Beaty, Terri H TH; Bailey-Wilson, Joan E JE
Publication Date: 2015-07

Variant appearance in text: rs3789451
PubMed Link: 25663376
Variant Present in the following documents:
  • Main text
View BVdb publication page