Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.S941_T942Splc
Back to variants list

TRPS1

NM_014112.5:p.S941_T942Splc

Associated Papers

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM et al.

European Journal of Medical Genetics, 2015

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Kaiser FJ et al.

European Journal of Human Genetics : Ejhg, 2004

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."