Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC3
Variant:p.R415*
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DNAJC3

NM_006260.5:p.R415*

Associated Papers

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Stem cell senescence drives age-attenuated induction of pituitary tumours in mouse models of paediatric craniopharyngioma.

Gonzalez-Meljem JM et al.

Nature Communications, 2017

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Brastianos PK et al.

Nature Genetics, 2014

24413733 (PubMed )
Supplement: NIHMS547859-supplement-1.xlsx › Supplementary_Table_2
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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."