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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDUA

Variant:p.L480fs

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IDUA

NM_000203.5:p.L480fs

hg38:chr4:1003071 C>CN

Associated Papers

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biophysical Journal, 2024

38042986 (PubMed )

Supplement: mmc2.pdf

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