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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM127

Variant:p.L31L

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TMEM127

NM_017849.4:p.L31L

hg38:chr2:96265291 G>A

Associated Papers

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.

Kaplan AI et al.

Endocrine-related Cancer, 2024

39133175 (PubMed )

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P et al.

Journal of the Endocrine Society, 2018

29978154 (PubMed )

Supplement: js.2018-00120.sd1.docx

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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."