Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.H3594Y
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ALMS1

NM_001378454.1:p.H3594Y

Associated Papers

Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series.

Mihai CM et al.

Cases Journal, 2009

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T et al.

Orphanet Journal of Rare Diseases, 2007

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Marshall JD et al.

Human Mutation, 2007

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.

Mihai CM et al.

Journal of Medicine and Life, 0

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