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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PACS1

Variant:p.T204T

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PACS1

NM_018026.4:p.T204T

hg38:chr11:66211211 C>T

Associated Papers

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.

Rylaarsdam L et al.

Nature Communications, 2024

38280846 (PubMed )

Supplement: 41467_2024_44989_MOESM1_ESM.pdf

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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."