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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D24

Variant:p.V231I

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TBC1D24

NM_001199107.2:p.V231I

hg38:chr16:2496839 G>A

Associated Papers

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM et al.

The Lancet. Neurology, 2014

24291220 (PubMed )

Supplement: mmc1.pdf

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