Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.V68D
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SFTPC

NM_001317778.2:p.V68D

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

Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

Park H et al.

Lung, 2022

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Kim SY et al.

Orphanet Journal of Rare Diseases, 2019

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

Park JS et al.

Journal of Korean Medical Science, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."