Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.C12*
Back to variants list

OSTM1

NM_014028.4:p.C12*

Associated Papers

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

Pangrazio A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

Souraty N et al.

European Journal of Medical Genetics, 0

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."