Related Experiment Videos
Genetic heterogeneity of aniridia: negative linkage data
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Nature communications·2019
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
Annals of oncology : official journal of the European Society for Medical Oncology·2016
Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.
bioRxiv : the preprint server for biology·2026
Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.
medRxiv : the preprint server for health sciences·2026
Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis.
medRxiv : the preprint server for health sciences·2026