Varaico: Literature-Extracted Genetic Variants

Gene:ATL2
Variant:p.R244Q
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ATL2

NM_001135673.4:p.R244Q

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Lung_metastasis_AMP_ACMG

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Rismanchi N et al.

Human Molecular Genetics, 2008

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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."