Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.K297_L298Splc
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SPDL1

NM_017785.5:p.K297_L298Splc

Associated Papers

A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.

Alonso-González A et al.

European Journal of Human Genetics : Ejhg, 2025

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.

Alonso-González A et al.

The Lancet. Respiratory Medicine, 2025

40311650 (PubMed )
Supplement: mmc1.pdf
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