Varaico: Literature-Extracted Genetic Variants

Gene:PRDM6
Variant:p.P47R
Back to variants list

PRDM6

NM_001136239.4:p.P47R

Associated Papers

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Wang J et al.

Genome Medicine, 2015

26338694 (PubMed )
Supplement: 13073_2015_207_MOESM1_ESM.xlsx › S6

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."