Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.P575L
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COL8A2

NM_005202.4:p.P575L

Associated Papers

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Zhang J et al.

Molecular Diagnosis & Therapy, 2019

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Igo RP et al.

Plos One, 2012

23110055 (PubMed )
Supplement: pone.0046742.s005.xls › COL8A2_tallies

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

Aldave AJ et al.

Investigative Ophthalmology & Visual Science, 2006

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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."