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VarSome (@varsome)

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1 0 0 0 OA Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S)

Novel ATTR #mutation https://t.co/LHeV99ZfE2 linked to hereditary ATTR #amyloidosis with #cardiomyopathy identified in a 65-year-old #Japanese #patient #HeartHealth #cardiology https://t.co/0Wbg4G7SRp

2 0 0 0 OA Different Clinical Presentation and Tissue Characterization in a Monozygotic Twin Pair with MYH7 Mutation-Related Hypertrophic Cardiomyopathy

Novel MYH7 #mutation responsible for #hypertrophic #cardiomyopathy in #monozygotic twins, shows different clinical presentation and tissue characterization #cardiology #hearthealth https://t.co/3XLFqMAfYR

2 0 0 0 OA Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder

SZT2 https://t.co/yEHDeK38lt variant, being homozygous due to uniparental disomy, identified in a patient with a neurodevelopmental #disorder https://t.co/iisoFTq7CB

1 0 0 0 OA A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family

Novel GJB2 compound heterozygous #mutations https://t.co/pnytwK4FYL associated with non-syndromic #hearing #loss in a #Chinese family https://t.co/Ul9fhgpirC

2 0 0 0 OA Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

Novel #homozygous CYP7B1 frameshift #mutation https://t.co/ECTjp3LiJL in a #Japanese #patient with SPG5 identified via #exome #sequencing #Neurology https://t.co/IxwJrRYU4K

1 0 0 0 OA Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing

Novel MYO6 mutation https://t.co/WgsaBosYfq identified via #exome sequencing in a #Chinese family with autosomal dominant non-syndromic #hearingloss https://t.co/javJACFDsi

1 0 0 0 OA A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient

LAMA2 mutation https://t.co/ANlr0uhUK4 causes partial #Merosin Deficiency in a #Japanese patient congenital #muscularDystrophy with leukoencephalopathy #muscle #health #genetics https://t.co/sGor5eXLHa

3 0 0 0 OA A SLC24A2 Gene Variant Uncovered in Pancreatic Ductal Adenocarcinoma by Whole Exome Sequencing

Novel SLC24A2 #variant https://t.co/Fwi8R3tnIs in #Pancreatic Ductal #Adenocarcinoma #cancer #exome #sequencing https://t.co/CMtDUiaTLl

3 0 0 0 OA Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes

Different ANK2 variants https://t.co/glzEp23fll https://t.co/F1k8PmXyyI cause variability of Primary #Arrhythmia https://t.co/vuCLdatZye

4 0 0 0 OA Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

ARID1B https://t.co/vtY89EJf8G linked to Coffin-Siris #syndrome w/t café-au-lait spots, #obesity & #hyperinsulinism https://t.co/t9yV1jxwQ3

6 0 0 0 OA Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients

#TP53 https://t.co/tRglyJhmUL is likely to be low-penetrant #germline #mutation in Japanese cancer #patients https://t.co/qOtsujTFeq