Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.R116W
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P3H2

NM_018192.4:p.R116W

Associated Papers

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.

Yan N et al.

Bmc Medical Genetics, 2019

30890130 (PubMed )
Supplement: 12881_2019_780_MOESM2_ESM.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."