Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1339F
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NF1

NM_001042492.3:p.L1339F

Associated Papers

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

Vernimmen V et al.

Human Reproduction (oxford, England), 2026

41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf

Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Jia L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

30980040 (PubMed )
Supplement: NIHMS1523944-supplement-1.xlsx › Sheet1

Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.

Carlo MI et al.

Clinical Genitourinary Cancer, 2017

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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."