Varaico: Literature-Extracted Genetic Variants

Gene:SBF2
Variant:p.S1252C
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SBF2

NM_030962.4:p.S1252C

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

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wu SW et al.

Italian Journal of Pediatrics, 2021

34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1

Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.

Mei HF et al.

World Journal of Pediatrics : Wjp, 2021

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.

Lv S et al.

Frontiers in Cell and Developmental Biology, 2021

34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
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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."