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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKP1

Variant:p.G612Splc

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PKP1

NM_001005337.3:p.G612Splc

hg38:chr1:201324940 G>C

Associated Papers

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Youssefian L et al.

Clinical Chemistry, 2021

33969388 (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."