Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.P2687T
Back to variants list

SPEG

NM_005876.5:p.P2687T

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.

Bale G et al.

Journal of Gastroenterology and Hepatology, 2024

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Fujimoto HM et al.

Human Genome Variation, 2023

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

Jaouadi H et al.

International Journal of Molecular Sciences, 2022

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s6.xls › Sheet1

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

Meeus B et al.

Journal of Alzheimer's Disease : Jad, 2010

20164589 (PubMed )
Supplement: sj-pdf-1-alz-10.3233_jad-2010-1356.pdf
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."