PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 8325895 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a pa 1.75 KB 2015-11-27 28 0
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PubMed 15471865 A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tub 1.97 KB 2015-11-19 28 0
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PubMed 17304550 Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. We report cy 1.02 KB 2015-11-23 28 0
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PubMed 15191352 Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 rec 1.03 KB 2015-11-19 28 0
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PubMed 17177139 A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone 1.97 KB 2015-12-25 28 0
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PubMed 6826539 Structural analysis of a beta-thalassemia gene found in Taiwan. The beta-globin gene from a patient 496 Bytes 2015-11-28 28 0
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PubMed 11087738 A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivi 1.93 KB 2015-11-17 27 0
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PubMed 18408010 A mutation in telethonin alters Nav1.5 function. Excitable cells express a variety of ion channels t 1.68 KB 2017-09-04 27 0
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PubMed 10446171 Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. In h 1.52 KB 2015-11-21 27 0
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PubMed 1556139 A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic s 2.38 KB 2015-11-18 27 0
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