Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.M1V
Back to variants list

CHP1

NM_007236.5:p.M1V

Associated Papers

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Esenboga S et al.

Scandinavian Journal of Immunology, 2018

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Maia-Lopes S et al.

Molecular Vision, 2009

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

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."