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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYSF

Variant:p.E1993*

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DYSF

NM_001130987.2:p.E1993*

hg38:chr2:71679149 G>T

Associated Papers

Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Nashi S et al.

Neurogenetics, 2023

36580222 (PubMed )

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