Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.M243_L244Splc
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PHF6

NM_001015877.2:p.M243_L244Splc

Associated Papers

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

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

A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.

Garcia-Melendo C et al.

Pediatric Dermatology, 2021

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone
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