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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBCK1

Variant:p.Q179fs

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RBCK1

NM_031229.4:p.Q179fs

hg38:chr20:419421 CAG>N

Associated Papers

Scaling skin and failing heart: the cardio-cutaneous connection.

Krishnan GS et al.

Indian Journal of Thoracic and Cardiovascular Surgery, 2022

35221561 (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."