No abstract available
MeSH terms
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Frameshift Mutation
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Guanine Nucleotide Exchange Factors / genetics*
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Guanine Nucleotide Exchange Factors / metabolism
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Haplotypes
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Hermanski-Pudlak Syndrome / complications
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Hermanski-Pudlak Syndrome / genetics*
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Hermanski-Pudlak Syndrome / metabolism
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Humans
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism
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Mutation, Missense
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Pulmonary Fibrosis / etiology
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Pulmonary Fibrosis / genetics*
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Pulmonary Fibrosis / metabolism
Substances
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Guanine Nucleotide Exchange Factors
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HPS1 protein, human
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HPS4 protein, human
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Membrane Proteins