Varaico: Literature-Extracted Genetic Variants

Gene:PROM2
Variant:p.Q548Splc
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PROM2

NM_001165978.3:p.Q548Splc

Associated Papers

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Parry DA et al.

American Journal of Human Genetics, 2009

19200525 (PubMed )
Supplement: mmc1.pdf
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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."