Varaico: Literature-Extracted Genetic Variants

Gene:SFRP4
Variant:p.V161_E163delFs
Back to variants list

SFRP4

NM_003014.4:p.V161_E163delFs

Associated Papers

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.

Sowińska-Seidler A et al.

Frontiers in Genetics, 2020

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Kiper POS et al.

The New England Journal of Medicine, 2016

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."