ABCA4 c.2919_2920insCAAA ;(p.S974Qfs*23)

Variant ID: 1-94510299-A-ATTTG

NM_000350.2(ABCA4):c.2919_2920insCAAA;(p.S974Qfs*23)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
Publication Date: 2020-09-04

Variant appearance in text: ABCA4: S974Qfs
PubMed Link: 32653833
Variant Present in the following documents:
  • Main text
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