Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.S192fs
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ACY1

NM_000666.3:p.S192fs

Associated Papers

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.

Alessandrì MG et al.

Jimd Reports, 2014

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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."