Varaico: Literature-Extracted Genetic Variants

Gene:ELMO2
Variant:p.I606S
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ELMO2

NM_133171.5:p.I606S

Associated Papers

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Perrone E et al.

American Journal of Medical Genetics. Part A, 2024

Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.

Scala M et al.

Cells, 2021

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?

Schreuder WH et al.

Bone, 2021

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Mehawej C et al.

Clinical Genetics, 2018

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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."