Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.R967W
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PLEKHA7

NM_001329630.2:p.R967W

Associated Papers

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D et al.

Plos Genetics, 2019

31034465 (PubMed )
Supplement: pgen.1008088.s007.xlsx › Sheet1
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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."