ABCA4 c.2821_2822delinsAC ;(p.C941T)

Variant ID: 1-94512571-CA-GT

NM_000350.2(ABCA4):c.2821_2822delinsAC;(p.C941T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

The Journal Of Clinical Investigation
Tsukaguchi, Hiroyasu H; Sudhakar, Akulapalli A; Le, Tu Cam TC; Nguyen, Trang T; Yao, Jun J; Schwimmer, Joshua A JA; Schachter, Asher D AD; Poch, Esteban E; Abreu, Patricia F PF; Appel, Gerald B GB; Pereira, Aparecido B AB; Kalluri, Raghu R; Pollak, Martin R MR
Publication Date: 2002-12

Variant appearance in text: ABCR: C941T
PubMed Link: 12464671
Variant Present in the following documents:
  • Main text
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