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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INPP5K

Variant:p.N417_S418delFs

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INPP5K

NM_016532.4:p.N417_S418delFs

hg38:chr17:1496097 CTG>C

Associated Papers

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS et al.

American Journal of Human Genetics, 2017

28190459 (PubMed )

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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."