Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C85*
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PHF6

NM_001015877.2:p.C85*

Associated Papers

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Jain V et al.

European Journal of Human Genetics : Ejhg, 2023

Mutational analysis of disease relapse in patients allografted for acute myeloid leukemia.

Quek L et al.

Blood Advances, 2016

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Charng WL et al.

Bmc Medical Genomics, 2016

27435318 (PubMed )
Supplement: 12920_2016_208_MOESM1_ESM.xls › 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."