Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.L362fs
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ZMPSTE24

NM_005857.5:p.L362fs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 2025

40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

Wang J et al.

Pediatric Research, 2024

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Peng L et al.

Cell Death & Disease, 2022

35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3

Patient-derived xenografts and organoids model therapy response in prostate cancer.

Karkampouna S et al.

Nature Communications, 2021

33602919 (PubMed )
Supplement: 41467_2021_21300_MOESM5_ESM.xlsx › somatic_mutations_PNPCa

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.

Cirulli ET et al.

Cell Metabolism, 2019

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Triggs-Raine B et al.

Molecular Genetics & Genomic Medicine, 2016

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL et al.

European Journal of Human Genetics : Ejhg, 2014

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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."