Varaico: Literature-Extracted Genetic Variants

Gene:AFF2
Variant:p.S421Splc
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AFF2

NM_002025.4:p.S421Splc

Associated Papers

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Lucia-Campos C et al.

Frontiers in Genetics, 2024

39553472 (PubMed )
Supplement: Table2.XLSX › Supplementary_Table_1

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

Fu F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018

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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."