Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH2L
Variant:p.E329_T334del6
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GPATCH2L

NM_017926.4:p.E329_T334del6

Associated Papers

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Meyer E et al.

American Journal of Human Genetics, 2010

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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."