Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C99*
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PHF6

NM_001015877.2:p.C99*

Associated Papers

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

McRae HM et al.

Plos Genetics, 2024

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

Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.

Kook HW et al.

Journal of Cancer, 2022

36186901 (PubMed )
Supplement: jcav13p3326s1.pdf
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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."