Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.P130S
Back to variants list

METAP2

NM_006838.4:p.P130S

Associated Papers

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2018

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Badalzadeh M et al.

International Journal of Immunogenetics, 2017

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B et al.

Human Mutation, 2001

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."