Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.Q906R
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SCAPER

NM_020843.4:p.Q906R

Associated Papers

A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.

Yuan M et al.

Translational Pediatrics, 2023

36798937 (PubMed )
Supplement: tp-12-01-86-supplementary.pdf
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