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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM20B

Variant:p.R290C

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FAM20B

NM_014864.4:p.R290C

hg38:chr1:179064426 C>T

Associated Papers

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.

Arduç A et al.

Clinical Genetics, 2025

41277483 (PubMed )

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