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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGV

Variant:p.H349Y

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PIGV

NM_017837.4:p.H349Y

hg38:chr1:26795079 C>T

Associated Papers

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Xue J et al.

Brain & Development, 2016

27177984 (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."