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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANXA11

Variant:p.D40V

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ANXA11

NM_145868.2:p.D40V

hg38:chr10:80170852 T>A

Associated Papers

The novel missense variant D40V causes a young adult presentation of ANXA11-related myopathy.

Martins AP et al.

Neuromuscular Disorders : Nmd, 2025

40730020 (PubMed )

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