Varaico: Literature-Extracted Genetic Variants

Gene:TPH1
Variant:p.R230H
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TPH1

NM_004179.3:p.R230H

Associated Papers

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Savola P et al.

Haematologica, 2020

33256375 (PubMed )
Supplement: 2019_220889_SAVOLA_SUPPL.pdf

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K et al.

European Journal of Human Genetics : Ejhg, 2017

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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."