Varaico: Literature-Extracted Genetic Variants

Gene:GAS2L2
Variant:p.V296fs
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GAS2L2

NM_139285.4:p.V296fs

Associated Papers

Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome.

Melo M et al.

Hgg Advances, 2025

40814173 (PubMed )
Supplement: mmc1.pdf

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Shoemark A et al.

The European Respiratory Journal, 2022

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Bustamante-Marin XM et al.

American Journal of Human Genetics, 2019

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