Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V530A
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NF1

NM_001042492.3:p.V530A

Associated Papers

Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features.

Pedroni M et al.

Genes, 2022

Whole exome sequencing in familial isolated primary hyperparathyroidism.

Cetani F et al.

Journal of Endocrinological Investigation, 2020

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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."