Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.N251D
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HEPHL1

NM_001098672.2:p.N251D

Associated Papers

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Yemni EA et al.

Scientific Reports, 2019

30833663 (PubMed )
Supplement: 41598_2019_40102_MOESM1_ESM.pdf

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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