Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH2

Variant:p.R1047W

Back to variants list

PTCH2

NM_003738.5:p.R1047W

hg38:chr1:44823361 G>A

Associated Papers

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

Bonachea EM et al.

Bmc Medical Genomics, 2014

25260786 (PubMed )

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."