Associated Papers
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous Z et al.
Plos Genetics, 2021
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
RES complex is associated with intron definition and required for zebrafish early embryogenesis.
Fernandez JP et al.
Plos Genetics, 2018
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012
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