Jansky–Bielschowsky disease

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1. ↑ ^{1,0 1,1 1,2 1,3} Monarch Disease Ontology release 2018-06-29, 3 jul. 2018, MONDO_0015674
2. ↑ Freebase Data Dumps, 28 okt. 2013
3. ↑ The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
4. ↑ Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
5. ↑ The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
6. ↑ CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis