Varaico: Literature-Extracted Genetic Variants

Gene:ASCC3
Variant:p.S1564P
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ASCC3

NM_006828.4:p.S1564P

Associated Papers

CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.

Geng J et al.

Science Translational Medicine, 2025

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.

Nair D et al.

Hgg Advances, 2021

35047834 (PubMed )
Supplement: mmc1.pdf

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."