ABCA4 c.339C>T ;(p.L113=)

Variant ID: 1-94574236-G-A

NM_000350.2(ABCA4):c.339C>T;(p.L113=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Modification of the PROM1 disease phenotype by a mutation in ABCA4.

Ophthalmic Genetics
Lee, Winston W; Paavo, Maarjaliis M; Zernant, Jana J; Stong, Nicholas N; Laurente, Zachary Z; Bearelly, Srilaxmi S; Nagasaki, Takayuki T; Tsang, Stephen H SH; Goldstein, David B DB; Allikmets, Rando R
Publication Date: 2019-08

Variant appearance in text: ABCA4: Leu113Leu
PubMed Link: 31576780
Variant Present in the following documents:
  • Main text
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