Associated Papers
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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