PMC:4385177 / 7351-7866 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"Filtering of the exome data as above left just two possible candidate causal homozygous variants (both located in the largest stretch of shared homozygosity on chromosome 1) for further consideration: the first (c.625G\u003eA [p.Val209Met]; RefSeq NM_006762.2) was in exon 7 of LAPTM5 (MIM 601476), which encodes a lysosomal transmembrane protein, and the second (c.225C\u003eA [p.Asn75Lys]; RefSeq NM_002143.2) was in exon 2 of HPCA (MIM 142622), which encodes the neuronal calcium sensor (NCS) protein known as hippocalcin.","tracks":[]}