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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCBD1

Variant:p.L16delFs

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PCBD1

NM_000281.4:p.L16delFs

hg38:chr10:70885886 AG>A

Associated Papers

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite D et al.

Diabetes, 2014

24848070 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."