Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.Y248H
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PSAP

NM_002778.4:p.Y248H

Associated Papers

Clamping, bending, and twisting inter-domain motions in the misfold-recognizing portion of UDP-glucose: Glycoprotein glucosyltransferase.

Modenutti CP et al.

Structure (london, England : 1993), 2021

33352114 (PubMed )
Supplement: mmc1.pdf
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