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DisGeNET5_variant_disease
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# proj.
# Ann.
updated_at
PubMed
10051009
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant h
1.17 KB
2015-11-01
6
3
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PubMed
10051572
Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, C
1.25 KB
2015-11-20
4
5
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PubMed
10051603
Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the pho
1.46 KB
2015-11-01
6
3
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PubMed
10053006
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me
1.3 KB
2015-11-02
5
16
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PubMed
10067911
Clinical variability in patients with Apert's syndrome. OBJECT: Apert's syndrome is characterized by
1.5 KB
2015-11-15
3
3
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PubMed
10070616
The molecular basis of transferase galactosaemia in South African negroids. Transferase galactosaemi
894 Bytes
2015-11-02
4
5
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PubMed
10070866
Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marke
1.63 KB
2015-11-02
8
5
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PubMed
10071056
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinica
1.33 KB
2015-11-02
5
3
-
PubMed
10071100
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn2
1.39 KB
2015-11-02
6
3
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PubMed
10072044
Gelsolin-related spinal and cerebral amyloid angiopathy. Gelsolin-related amyloidosis (familial amyl
1.47 KB
2015-11-02
5
3
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