Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q78L
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PRKN

NM_004562.3:p.Q78L

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation.

Zhang X et al.

Developmental Cell, 2022

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

Cybulski C et al.

Journal of Medical Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."