Varaico: Literature-Extracted Genetic Variants

Gene:PLSCR4
Variant:p.G220insFs
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PLSCR4

NM_020353.3:p.G220insFs

Associated Papers

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Karayol R et al.

American Journal of Human Genetics, 2024

38815585 (PubMed )
Supplement: mmc3.pdf
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