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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.L1283_R1285del3

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PKD1

NM_001009944.3:p.L1283_R1285del3

hg38:chr16:2111311 TCCGGGCCAG>T

Associated Papers

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (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."