Associated Papers
Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.
Helms M et al.
Ophthalmic Genetics, 2026
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A et al.
American Journal of Medical Genetics. Part A, 2023
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012
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