Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.Q81L
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F12

NM_000505.4:p.Q81L

Associated Papers

RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.

Dou D et al.

The Journal of Cell Biology, 2024

RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.

Dou D et al.

Biorxiv : the Preprint Server for Biology, 2023

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Albader N et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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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."