טוען...
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy
IMPORTANCE: As genetic and genomic screening is becoming more widely accessed, correctly distinguishing pathogenic from nonpathogenic variants is of increasing relevance. OBJECTIVE: To reevaluate a previously reported family in whom the p.(Pro50Leu) variant in the gene GUCA1A was associated with a d...
שמור ב:
| הוצא לאור ב: | JAMA Ophthalmol |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Medical Association
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6902164/ https://ncbi.nlm.nih.gov/pubmed/31804667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2019.4959 |
| תגים: |
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