PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 32878022-2 2020 By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu). phe104leu 245-254 N-deacetylase and N-sulfotransferase 1 Homo sapiens 189-194