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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPB

Variant:p.G244S

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SFTPB

NM_000542.5:p.G244S

hg38:chr2:85663790 C>T

Associated Papers

A Hypomorphic Variant in Surfactant Protein B Deficiency: Survival of Two Patients.

Yegit CY et al.

Pediatric Pulmonology, 2025

40709663 (PubMed )

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