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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAB7A

Variant:p.Q176_E177Splc

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RAB7A

NM_004637.6:p.Q176_E177Splc

hg38:chr3:128807695 C>T

Associated Papers

Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Sahin-Calapoglu N et al.

Neuromolecular Medicine, 2009

19381883 (PubMed )

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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."