Varsome is a variant knowledge aggregator and variant data search engine - discovery tool
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#mutations identified in a Chinese patient with leukodystrophy
Posted 5 years ago (23 August 2019)
Homozygous SLC26A7#mutation in two siblings with Congenital goitrous #hypothyroidism identi…
Posted 5 years ago (12 August 2019)
Novel #mutation associated with #Hemorrhagic #stroke and renovascular #hypertension…
Posted 5 years ago (09 July 2019)
Genotype-phenotype correlations of known and novel #mutations in patients with Wolfra…
Germline #mutations characterize subcutaneous panniculitis-like T cell #lymphomas wi…
Posted 5 years ago (08 May 2019)
Novel #mutation in female #patient with spastic #paraplegia
Posted 5 years ago (22 April 2019)
Deep-intronic variants associate with #Stargardt disease #ophthalmology #eyehealth…
Posted 5 years ago (21 January 2019)
biallelic variants in #patients with developmental delay, #cataract, and craniofacial…
Posted 5 years ago (16 January 2019)
variant associated with tacrolimus concentrations in kidney transplant patients…
Posted 5 years ago (03 January 2019)
Novel variants in and PDE4D, associated with acrodysostosis and acroscyphodysplasia…
Posted 6 years ago (25 July 2018)
Novel missense #mutation associated with a dominant form of late onset #hearingloss
Posted 6 years ago (20 June 2018)
De Novo and Inherited Loss-of-Function variants associated with Distinct…
Posted 6 years ago (12 June 2018)
Rare #mutation detected in patient with non-syndromic human #brain #arteriovenous mal…
Posted 6 years ago (04 June 2018)
Novel autosomal biallelic #mutations associated with #microcephaly, #short #stature,…
Posted 6 years ago (21 May 2018)
New X-linked #mutation detected in a boy with severe #autistic behaviour…
Posted 6 years ago (08 May 2018)
#GWAS variants asscociated with #cholesterol efflux capacity #HDL levels
Posted 6 years ago (03 May 2018)
variant associated with #insulin Resistance and #FattyLiver in Caucasian Obese Youth…
Posted 6 years ago (12 March 2018)
Novel homozygous variant in patients with #Joubert #syndrome impairs its guanine nuc…
Posted 6 years ago (02 January 2018)
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