Associated Papers
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
38731905 (PubMed )
Supplement: ijms-25-04686-s001.zip › ijms-2913894-supplementary.pdf
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
37450374 (PubMed )
Supplement: BLOODA_ADV-2023-009742-mmc2.xlsx › 20220406_291_germline_paired_gn
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Tuncay IO et al.
Npj Genomic Medicine, 2022
35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9
Accurate fetal variant calling in the presence of maternal cell contamination.
Nabieva E et al.
European Journal of Human Genetics : Ejhg, 2020
32728107 (PubMed )
Supplement: 41431_2020_697_MOESM1_ESM.pdf
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
32697969 (PubMed )
Supplement: mmc3.xlsx › A__Coding_mutations_IBD
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_10
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315
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