Varaico: Literature-Extracted Genetic Variants

Gene:PRMT9
Variant:p.G189R
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PRMT9

NM_138364.4:p.G189R

Associated Papers

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Kröll-Hermi A et al.

American Journal of Human Genetics, 2025

Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing.

Shen L et al.

Nature Communications, 2024

Genetics of recessive cognitive disorders.

Musante L et al.

Trends in Genetics : Tig, 2014

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."