Varaico: Literature-Extracted Genetic Variants

Gene:PHLDA2
Variant:p.A121V
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PHLDA2

NM_003311.4:p.A121V

Associated Papers

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Akahori M 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."