Varaico: Literature-Extracted Genetic Variants

Gene:LOXL2
Variant:p.H45Y
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LOXL2

NM_002318.3:p.H45Y

Associated Papers

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

Hou W et al.

Annals of Neurosciences, 2026

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data

Genetics of Intracranial Aneurysms.

Bakker MK et al.

Stroke, 2021

Polymorphisms in Lysyl Oxidase Family Genes Are Associated With Intracranial Aneurysm Susceptibility in a Chinese Population.

Luo C et al.

Frontiers in Endocrinology, 2021

A Preliminary Study of the Association between SOX17 Gene Variants and Intracranial Aneurysms Using Exome Sequencing.

Park JJ et al.

Journal of Korean Neurosurgical Society, 2020

Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.

Wu Y et al.

World Neurosurgery, 2018

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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."