Varaico: Literature-Extracted Genetic Variants

Gene:EBPL
Variant:p.E123D
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EBPL

NM_032565.5:p.E123D

Associated Papers

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization.

Moebius FF et al.

Biochemistry, 1999

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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."