Varaico: Literature-Extracted Genetic Variants

Gene:CRNKL1
Variant:p.Q50*
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CRNKL1

NM_001278628.2:p.Q50*

Associated Papers

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.

van Engelen N et al.

Orphanet Journal of Rare Diseases, 2025

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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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."