Varaico: Literature-Extracted Genetic Variants

Gene:PATL1
Variant:p.A41T
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PATL1

NM_152716.3:p.A41T

Associated Papers

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

Crespin M et al.

Hgg Advances, 2025

39420558 (PubMed )
Supplement: mmc2.pdf

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Derksen A et al.

Hgg Advances, 2021

35047835 (PubMed )
Supplement: mmc2.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."