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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHROOM4

Variant:p.Q1130Q

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SHROOM4

NM_020717.5:p.Q1130Q

hg38:chrX:50607752 T>C

Associated Papers

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )

Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

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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."