ABCA4 p.Arg149Trp
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 25342620
[PubMed]
Sanchez-Alcudia R et al: "Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families."
No.
Sentence
Comment
63
The novel variant p.Arg149Trp was found in homozygosis in the TULP1 gene.
X
ABCA4 p.Arg149Trp 25342620:63:20
status: NEW