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Q57484322-78153B67-74FB-4FA5-A129-43E2C0546B32
Q57484322-78153B67-74FB-4FA5-A129-43E2C0546B32
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-78153B67-74FB-4FA5-A129-43E2C0546B32
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
P2860
Q57484322-78153B67-74FB-4FA5-A129-43E2C0546B32
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-78153B67-74FB-4FA5-A129-43E2C0546B32
rank
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wasDerivedFrom
cddc5db81dd1747d2d348fa8b14e619569132815
P2860
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline