Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.M129V
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MAGEL2

NM_019066.5:p.M129V

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Mol MO et al.

Alzheimer's Research & Therapy, 2022

35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S2_excluded_variants

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1907.666
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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."