Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.T552M
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CPLANE1

NM_001384732.1:p.T552M

Associated Papers

Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.

Shan L et al.

Pediatric Research, 2025

40307499 (PubMed )
Supplement: 41390_2025_4085_MOESM1_ESM.xlsx › Sheet1

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2
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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."