Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.L1545L
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GLI3

NM_000168.6:p.L1545L

Associated Papers

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_7

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

Gibbons RJ et al.

Cell, 1995

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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."