Associated Papers
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.
Westin IM et al.
Scientific Reports, 2021
33833316 (PubMed )
Supplement: 41598_2021_87224_MOESM1_ESM.pdf
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ et al.
Human Molecular Genetics, 1999
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