Varaico: Literature-Extracted Genetic Variants

Gene:TPT1
Variant:p.M1V
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TPT1

NM_003295.4:p.M1V

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W et al.

Journal of Assisted Reproduction and Genetics, 2024

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

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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."