Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.L192L
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STX1A

NM_004603.4:p.L192L

Associated Papers

Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.

Ward A et al.

Human Mutation, 2024

40225935 (PubMed )
Supplement: 6165547.f1.zip › Supplementary_file_S1.pdf

Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

Kerem E

Pediatric Pulmonology, 2005

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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."