Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.N300T
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PKP1

NM_001005337.3:p.N300T

Associated Papers

Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.

Que Y et al.

Journal of Translational Medicine, 2024

39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.

Liu YP et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015

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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."