DANIEL CALAME to Genetic Variation
This is a "connection" page, showing publications DANIEL CALAME has written about Genetic Variation.
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0.260
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.100
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Bi-allelic LoF NRROS Variants Impairing Active TGF-?1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 04 02; 106(4):559-569.
Score: 0.100
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199.
Score: 0.034
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.027