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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.S1121_V1122del2

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PKD1

NM_001009944.3:p.S1121_V1122del2

hg38:chr16:2111800 GCACGCT>G

Associated Papers

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.

Li G et al.

American Journal of Medical Genetics. Part A, 2022

36161696 (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."