Varaico: Literature-Extracted Genetic Variants

Gene:ABCC1
Variant:p.C49Y
Back to variants list

ABCC1

NM_004996.4:p.C49Y

Associated Papers

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Rogler LE et al.

Human Molecular Genetics, 2014

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.

Wang Z et al.

Bmc Genomics, 2006

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."