Associated Papers
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.
Ullah I et al.
Human Genome Variation, 2016
27917291 (PubMed )
Supplement: hgv201636-s1.pdf
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
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