Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.T102fs
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SPRED1

NM_152594.3:p.T102fs

Associated Papers

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Chelleri C et al.

American Journal of Medical Genetics. Part A, 2024

Whole-exome sequencing for a more accurate diagnosis of intraductal papillary neoplasms of the bile duct.

Matsumori T et al.

Gastroenterology Report, 2022

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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."