Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.L694del1
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PHF8

NM_015107.3:p.L694del1

Associated Papers

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

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutations_of_BP-CML_cohort
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