Varaico: Literature-Extracted Genetic Variants

Gene:USB1
Variant:p.P54delFs
Back to variants list

USB1

NM_024598.4:p.P54delFs

Associated Papers

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.

Becker M et al.

American Journal of Medical Genetics. Part A, 2026

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.

Akdogan N et al.

Journal of Clinical Immunology, 2020

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.

Sakka R et al.

Pediatric Blood & Cancer, 2018

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."