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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRB

Variant:p.E19Splc

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PTPRB

NM_001109754.4:p.E19Splc

hg38:chr12:70636068 T>G

Associated Papers

Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome.

Jia Y et al.

Clinical Genetics, 2023

36148623 (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."