Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP1
Variant:p.E1814Q
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HIVEP1

NM_002114.4:p.E1814Q

Associated Papers

Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer.

Gao Q et al.

Oral Diseases, 2021

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN et al.

European Journal of Human Genetics : Ejhg, 2019

30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring
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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."