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List of works by Virginie G. Peter

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

scientific article published on 4 July 2022

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

scientific article published on 22 January 2021

Genomic and transcriptomic landscape of conjunctival melanoma

scientific article published on 31 December 2020

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

scientific article published on 19 August 2019

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

scientific article published on 10 December 2020

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

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