Varaico: Literature-Extracted Genetic Variants

Gene:WFDC2
Variant:p.C49R
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WFDC2

NM_006103.4:p.C49R

Associated Papers

Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.

Kim JM et al.

Respiratory Research, 2025

Severe bronchiectasis and chronic rhinosinusitis due to homozygous WFDC2 Variants: The first three cases reported from Japan.

Ito M et al.

Respiratory Medicine Case Reports, 2025

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Dougherty GW et al.

American Journal of Respiratory and Critical Care Medicine, 2024

Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.

Sundarrajan S et al.

Metabolic Brain Disease, 2023

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778464 (PubMed )
Supplement: media-1.xlsx › Table_2
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