Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD4
Variant:p.K195E
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FRMPD4

NM_001368397.1:p.K195E

Associated Papers

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS et al.

Orphanet Journal of Rare Diseases, 2015

25888122 (PubMed )
Supplement: 13023_2015_235_MOESM1_ESM.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."