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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.Y2527*

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LAMA2

NM_000426.4:p.Y2527*

hg38:chr6:129481271 C>A

Associated Papers

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.

Camelo CG et al.

Journal of Neuromuscular Diseases, 2023

37182895 (PubMed )

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