Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.R247S
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ALG9

NM_024740.2:p.R247S

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xlsx › Supplementary_table_5
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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."