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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1L3

Variant:p.E1007A

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PKD1L3

NM_181536.2:p.E1007A

hg38:chr16:71951734 T>G

Associated Papers

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

Seaby EG et al.

Healthcare (basel, Switzerland), 2023

38132069 (PubMed )

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778464 (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."