ABCA4 p.Thr236*
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PMID: 22863181
[PubMed]
Strom SP et al: "Molecular diagnosis of putative Stargardt disease probands by exome sequencing."
No.
Sentence
Comment
64
p.T236X .
X
ABCA4 p.Thr236* 22863181:64:2
status: NEW125 A single rare nonsense variant (p.T236X) in PRPH2 was identified in this participant.
X
ABCA4 p.Thr236* 22863181:125:34
status: NEW84 p.T236X .
X
ABCA4 p.Thr236* 22863181:84:2
status: NEW121 A single rare nonsense variant (p.T236X) in PRPH2 was identified in this participant.
X
ABCA4 p.Thr236* 22863181:121:34
status: NEW