Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.R1917C
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SPEN

NM_015001.3:p.R1917C

Associated Papers

Congenital deficiency reveals critical role of ISG15 in skin homeostasis.

Malik MNH et al.

The Journal of Clinical Investigation, 2022

34847081 (PubMed )
Supplement: jci-132-141573-s270.pdf
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