Varaico: Literature-Extracted Genetic Variants

Gene:RFX7
Variant:p.S1011fs
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RFX7

NM_022841.7:p.S1011fs

Associated Papers

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Harris HK et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30842647 (PubMed )
Supplement: 41436_2019_464_MOESM2_ESM.xlsx › Summary
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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."