ABCA4 c.1116del ;(p.L373*)

Variant ID: 1-94545001-AT-A

NM_000350.2(ABCA4):c.1116del;(p.L373*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

American Journal Of Human Genetics
Punj, Sumit S; Akkari, Yassmine Y; Huang, Jennifer J; Yang, Fei F; Creason, Allison A; Pak, Christine C; Potter, Amiee A; Dorschner, Michael O MO; Nickerson, Deborah A DA; Robertson, Peggy D PD; Jarvik, Gail P GP; Amendola, Laura M LM; Schleit, Jennifer J; Simpson, Dana Kostiner DK; Rope, Alan F AF; Reiss, Jacob J; Kauffman, Tia T; Gilmore, Marian J MJ; Himes, Patricia P; Wilfond, Benjamin B; Goddard, Katrina A B KAB; Richards, C Sue CS
Publication Date: 2018-06-07

Variant appearance in text: ABCA4: 1116delA
PubMed Link: 29754767
Variant Present in the following documents:
  • Main text
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