Matches in Nanopublications for { ?s ?p "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_assertion description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.