Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.P135L
Back to variants list

PPIB

NM_000942.5:p.P135L

Associated Papers

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

Giampietro PF et al.

American Journal of Medical Genetics. Part A, 2015

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."