LitCoin-Disease-MeSH  

Documents (400) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 18046082 Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with l 1.6 KB 2015-11-23 34 13 2021-12-22
PubMed 20335448 A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocort 1.96 KB 2015-11-25 34 13 2021-12-22
PubMed 28747658 A single amino acid substitution confers B-cell clonogenic activity to the HIV-1 matrix protein p17. 1.42 KB 2017-08-29 33 2 2021-12-22
PubMed 17033686 A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and ment 1.62 KB 2017-09-11 33 17 2021-12-22
PubMed 16412238 Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial par 1.45 KB 2015-11-20 33 7 2021-12-22
PubMed 20534762 Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undete 1.82 KB 2016-01-02 33 7 2021-12-22
PubMed 16005363 Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. 909 Bytes 2015-11-19 33 15 2021-12-22
PubMed 17345627 Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossifi 1.4 KB 2017-09-11 33 10 2021-12-22
PubMed 21684788 Large contiguous gene deletions in Sjögren-Larsson syndrome. Sjögren-Larsson syndrome (SLS) is an au 1.5 KB 2015-11-26 32 16 2021-12-22
PubMed 15122711 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Alpers' syndrome is 802 Bytes 2015-11-22 32 8 2021-12-22