Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.S2774Y
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SPEG

NM_005876.5:p.S2774Y

Associated Papers

Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.

Han X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39556706 (PubMed )
Supplement: ADVS-12-2406849-s001.zip › Table_S13.xlsx › variant_of_asd

One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.

Deng Q et al.

Gene, 2023

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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."