Varaico: Literature-Extracted Genetic Variants

Gene:POU3F2
Variant:p.D424_Y426del3
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POU3F2

NM_005604.4:p.D424_Y426del3

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Bruno LP et al.

International Journal of Molecular Sciences, 2021

34948243 (PubMed )
Supplement: ijms-22-13439-s001.zip › cartella_senza_titolo › Table_S3_Molecular_information_of_the_variants___2_.xlsx › Foglio1
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