Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.E394*
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SBF1

NM_002972.4:p.E394*

Associated Papers

Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.

Lindzon J et al.

Brain Communications, 2025

40066109 (PubMed )
Supplement: fcaf077_supplementary_data.zip › Supplementary_Table1_patientmutations.xlsx › ClinVar_SBF1_mutations

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ et al.

Human Mutation, 2019

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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."