Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L847P
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GAA

NM_000152.5:p.L847P

Associated Papers

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Griffiths S et al.

Familial Cancer, 2007

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM et al.

Human Mutation, 2000

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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."