Varaico: Literature-Extracted Genetic Variants

Gene:THSD4
Variant:p.V431M
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THSD4

NM_024817.3:p.V431M

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_5

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Elbitar S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32855533 (PubMed )
Supplement: NIHMS1729355-supplement-Supplementary_file.pdf
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