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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPC

Variant:p.L109fs

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SFTPC

NM_001317778.2:p.L109fs

hg38:chr8:22163436 CTG>N

Associated Papers

Novel surfactant C variant c.325-47_374del without response to hydroxychloroquine treatment.

Drobnakova S et al.

Respiratory Medicine Case Reports, 2024

38737517 (PubMed )

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