Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.P1350_S1351Fs
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CAMTA1

NM_015215.4:p.P1350_S1351Fs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."