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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAB14

Variant:p.L27W

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RAB14

NM_016322.4:p.L27W

hg38:chr9:121192197 A>C

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )

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