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ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1 [Rattus norv...
ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1 [Rattus norvegicus]
gi|1958672484|ref|XP_038946683.1|
Protein
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Dysautonomia, Familial
Dysautonomia, Familial
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and inc...<br/>Year introduced: 1981
MeSH
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Myotonic Dystrophy
Myotonic Dystrophy
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUC...<br/>Year introduced: 2000(1966)
MeSH
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Refsum Disease
Refsum Disease
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARD...<br/>Year introduced: 1996 (1964)
MeSH
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