Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.V42fs
Back to variants list

PPIB

NM_000942.5:p.V42fs

Associated Papers

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011

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."