Varaico: Literature-Extracted Genetic Variants

Gene:RTN2
Variant:p.T314fs
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RTN2

NM_005619.5:p.T314fs

Associated Papers

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP et al.

European Journal of Human Genetics : Ejhg, 2016

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