Varaico: Literature-Extracted Genetic Variants

Gene:RPLP0
Variant:p.M1V
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RPLP0

NM_001002.4:p.M1V

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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