Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 2021
34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
Quezada Urban R et al.
Cancers, 2018
30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
Klein RD et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.
Amar L et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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