Varaico: Literature-Extracted Genetic Variants

Gene:SREK1
Variant:p.P95L
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SREK1

NM_001077199.3:p.P95L

Associated Papers

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

Saeed S et al.

The Journal of Clinical Investigation, 2025

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