Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.Q133*
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SERPINF1

NM_002615.7:p.Q133*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A et al.

European Journal of Medical Genetics, 2020

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Wang JY et al.

Calcified Tissue International, 2017

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