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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.L3287R

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PKD1

NM_001009944.3:p.L3287R

hg38:chr16:2099924 A>C

Associated Papers

Genetic analysis and counseling of ADPKD caused by novel heterozygous mutations of PKD1 in two Chinese families: Case report.

Wang Y et al.

Heliyon, 2024

39634429 (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."