Associated Papers
ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging ACE Missense Mutation-Y215C (rs3730025).
Buianova AA et al.
Biomedicines, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
Genomic classification of benign adrenocortical lesions.
Faillot S et al.
Endocrine-related Cancer, 2021
33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J et al.
British Journal of Haematology, 2019
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