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tmVarCorpus
Documents
(500)
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# proj.
# Ann.
updated_at
PubMed
16601880
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. Glycine
2.22 KB
2015-11-19
4
46
-
PubMed
21937424
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu
1.91 KB
2015-11-26
21
27
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PubMed
15770495
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase def
1.78 KB
2015-11-19
26
23
-
PubMed
16256386
Phenylketonuria mutations in Northern China. Mutation spectrum of phenylalanine hydroxylase (PAH) ge
1.71 KB
2015-11-19
4
20
-
PubMed
15623763
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. PURPOSE: T
1.89 KB
2015-11-18
13
19
-
PubMed
15880727
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance i
1.46 KB
2015-11-19
5
18
-
PubMed
15069170
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with G
1.81 KB
2015-11-22
25
16
-
PubMed
18385794
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with
2.22 KB
2015-11-24
29
14
-
PubMed
20534142
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion. BACKGR
2.02 KB
2015-11-25
29
14
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PubMed
20523265
Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a
2.3 KB
2015-11-25
29
13
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