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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAN2

Variant:p.K191_Y192Splc

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PAN2

NM_014871.6:p.K191_Y192Splc

hg38:chr12:56328074 T>C

Associated Papers

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Reuter MS et al.

European Journal of Human Genetics : Ejhg, 2022

35304602 (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."