Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y1948F
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NF1

NM_001042492.3:p.Y1948F

Associated Papers

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.

Lima JV et al.

Endocrine Oncology (bristol, England), 2023

37529773 (PubMed )
Supplement: supplementary_table_1.pdf

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."