Soma Das to Heterozygote
This is a "connection" page, showing publications Soma Das has written about Heterozygote.
Connection Strength
0.275
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Score: 0.120
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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.
Score: 0.048
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Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2018 01 09; 2(1):36-48.
Score: 0.036
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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. Am J Med Genet A. 2015 Jun; 167(6):1414-7.
Score: 0.030
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.024
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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul; 9(7):413-26.
Score: 0.018