Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.H129Q
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EPHX1

NM_001136018.4:p.H129Q

Associated Papers

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Cannon-Albright LA et al.

Cancers, 2023

38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."