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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASXL1

Variant:p.V922fs

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ASXL1

NM_015338.6:p.V922fs

hg38:chr20:32435476 G>GN

Associated Papers

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Urreizti R et al.

Clinical Case Reports, 2018

30147881 (PubMed )

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