Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.L371P
Back to variants list

NR0B1

NM_000475.5:p.L371P

Associated Papers

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.

Rissardo JP et al.

Rambam Maimonides Medical Journal, 2024

Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.

Gupta S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function.

Holm R et al.

Biochimica Et Biophysica Acta, 2016

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H et al.

Neurology, 2014

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Yang X et al.

Plos One, 2014

24842602 (PubMed )
Supplement: pone.0097274.s003.xlsx › Table_S1
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."