Varaico: Literature-Extracted Genetic Variants

Gene:RSPRY1
Variant:p.T427insFs
Back to variants list

RSPRY1

NM_133368.3:p.T427insFs

Associated Papers

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO et al.

American Journal of Medical Genetics. Part A, 2018

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Faden M et al.

American Journal of Human Genetics, 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."