Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.L72P
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HTRA2

NM_013247.5:p.L72P

Associated Papers

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

Exome sequencing in dementia with Lewy bodies.

Keogh MJ et al.

Translational Psychiatry, 2016

26836416 (PubMed )
Supplement: tp2015220x1.docx

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Farlow JL et al.

Plos One, 2015

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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."