Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.L336fs
Back to variants list

TCIRG1

NM_006019.4:p.L336fs

Associated Papers

Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.

Cao W et al.

Bmj Open Ophthalmology, 2018

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.

Barvencik F et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

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."