Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Q145_A146Splc
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SFTPC

NM_001317778.2:p.Q145_A146Splc

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant.

Acosta-Rivera V et al.

Cureus, 2021

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.

Ono S et al.

The European Respiratory Journal, 2011

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