about
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeGermline mutations in BAP1 predispose to melanocytic tumorsFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinAn X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaMutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityCloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue
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description
hulumtues
@sq
onderzoeker
@nl
researcher
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հետազոտող
@hy
name
Christian Windpassinger
@ast
Christian Windpassinger
@en
Christian Windpassinger
@es
Christian Windpassinger
@nl
Christian Windpassinger
@sl
type
label
Christian Windpassinger
@ast
Christian Windpassinger
@en
Christian Windpassinger
@es
Christian Windpassinger
@nl
Christian Windpassinger
@sl
prefLabel
Christian Windpassinger
@ast
Christian Windpassinger
@en
Christian Windpassinger
@es
Christian Windpassinger
@nl
Christian Windpassinger
@sl