Matches in Nanopublications for { ?s ?p "[We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 1 of
1
with 100 items per page.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion description "[We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.