Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.A143fs
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OBSL1

NM_015311.3:p.A143fs

Associated Papers

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Piao Y et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

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