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DisGeNET5_variant_disease
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PubMed
10022392
Prenatal diagnosis of thyroid hormone resistance. A 29-yr-old woman with pituitary resistance to thy
3.11 KB
2018-04-11
9
3
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PubMed
10022417
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degre
1.63 KB
2015-10-30
8
3
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PubMed
10023663
Ganglioneuromas and renal anomalies are induced by activated RET(MEN2B) in transgenic mice. Multiple
1.5 KB
2015-10-30
5
3
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PubMed
10024437
A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection
804 Bytes
2015-10-30
5
5
-
PubMed
10024915
Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage dise
2 KB
2015-10-30
5
39
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PubMed
10027719
Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochro
790 Bytes
2015-10-31
6
14
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PubMed
10029606
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linke
1.64 KB
2015-10-31
13
14
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PubMed
10036327
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. Glucose-ga
1.38 KB
2015-10-31
22
5
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PubMed
10037069
Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H a
1.06 KB
2015-11-01
5
3
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PubMed
10037723
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. Germline mutat
1.41 KB
2015-11-01
24
5
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