Title : Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series.

Pub. Date : 2021 Feb 7

PMID : 33562224






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The three rare variants identified were: CLCN1, encoding a chloride channel, c.2848G>A:p.Glu950Lys (Patient 1); RYR2, encoding a calcium releasing ryanodine receptor, c.13175A>G:p.Lys4392Arg (Patient 2); and DCTN1, encoding a subunit of dynactin, c. 3209G>A:p.Arg1070Gln (Patient 6). Calcium ryanodine receptor 2 Homo sapiens