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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAI1

Variant:p.A1091D

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RAI1

NM_030665.4:p.A1091D

hg38:chr17:17796220 C>A

Associated Papers

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

Sironi A et al.

European Journal of Human Genetics : Ejhg, 2022

35821519 (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."