Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.G106D
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SDHD

NM_003002.4:p.G106D

Associated Papers

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ et al.

Cancers, 2024

38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Neck paraganglioma and follicular lymphoma: a case report.

Marchetti L et al.

Journal of Medical Case Reports, 2019

A Novel SDHB IVS2-2A>C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome.

Yamanaka M et al.

The Tohoku Journal of Experimental Medicine, 2018

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.

Santi R et al.

Anticancer Research, 2017

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V et al.

Endocrine-related Cancer, 2012

Familial cervical paragangliomas with lymph node metastasis expressing somatostatin receptor type 2A.

Kimura N et al.

Endocrine Pathology, 2010

Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas.

Yamashita R et al.

Endocrine Journal, 2009

Familial carotid body tumours: is there a role for genetic screening?

Jani P et al.

The Journal of Laryngology and Otology, 2008

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ et al.

Clinical Endocrinology, 2008

A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.

Ogawa K et al.

American Journal of Medical Genetics. Part A, 2006

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mannelli M et al.

Annals of the New York Academy of Sciences, 2006

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