Varaico: Literature-Extracted Genetic Variants

Gene:RAB6A
Variant:p.Q165_L166Splc
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RAB6A

NM_198896.2:p.Q165_L166Splc

Associated Papers

SNARE-ing the Reason for Post-Cardiac Surgery Critical Illness-Related Corticosteroid Insufficiency.

Diehl N et al.

Genes, 2024

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Rodríguez-García ME et al.

Human Mutation, 2022

35753050 (PubMed )
Supplement: supplement_1.pdf
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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."