Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.V268L
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PHF6

NM_001015877.2:p.V268L

Associated Papers

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Klau J et al.

European Journal of Human Genetics : Ejhg, 2022

34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
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