Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.E245*
Back to variants list

SERPINB6

NM_004568.6:p.E245*

Associated Papers

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L et al.

Bmc Medical Genomics, 2013

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

Sirmaci A et al.

American Journal of Human Genetics, 2010

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."