Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.T38S
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PSAP

NM_002778.4:p.T38S

Associated Papers

Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms.

Shih PY et al.

Acta Neuropathologica Communications, 2020

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C et al.

The European Respiratory Journal, 2015

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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."