Varaico: Literature-Extracted Genetic Variants

Gene:PRMT7
Variant:p.S431_S432del2
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PRMT7

NM_019023.5:p.S431_S432del2

Associated Papers

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Aleo S et al.

Molecular Syndromology, 2023

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.

Poquérusse J et al.

Journal of Human Genetics, 2022

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Valenzuela I et al.

European Journal of Medical Genetics, 2019

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Birnbaum R et al.

American Journal of Medical Genetics. Part A, 2019

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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."