Varaico: Literature-Extracted Genetic Variants

Gene:ABCC1
Variant:p.W40delFs
Back to variants list

ABCC1

NM_004996.4:p.W40delFs

Associated Papers

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O et al.

Clinical Genetics, 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."