Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L99delFs
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SDHD

NM_003002.4:p.L99delFs

Associated Papers

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Davidoff DF et al.

Endocrine-related Cancer, 2023

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants

Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

White G et al.

Endocrine Connections, 2022

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey RT et al.

Scientific Reports, 2019

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM et al.

Clinical Endocrinology, 2014

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Jafri M et al.

Clinical Endocrinology, 2013

The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

Badenhop RF et al.

Journal of Medical Genetics, 2004

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Astuti D et al.

Clinical Endocrinology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."