GLOB > GLOB*01N.08
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Phenotypes
P
PX2
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.959G>A | p.Trp320* | Exon 5 |
|
chr3:160,803,584 | chr3:161,085,796 |
|
Sequence
None
Publication
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