Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPK
Variant:p.R22H
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HNRNPK

NM_031263.4:p.R22H

Associated Papers

Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.

Pan X et al.

Frontiers in Genetics, 2022

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."