Documents (11) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
@dpavot	16960806	To date, CRYBA4 was the only gene in this cluster not associated with either human or murine cataracts.	103 Bytes	2020-02-21	1	3	-
@dpavot	22744456	MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.	131 Bytes	2020-02-21	1	3	-
@dpavot	24888247	In conclusion, CPS1 4217C>A polymorphism may not be associated with the development of hyperammonemia in Japanese population.	128 Bytes	2020-02-21	1	3	-
@dpavot	25142535	Previously there have been no reports of SCA31 associated with dystonia.	72 Bytes	2020-02-21	1	3	-
@dpavot	26399219	Prior studies that explored the hypothesis that EMT gene variants contribute to epithelial ovarian carcinoma (EOC) risk have been based on small sample sizes and none have sought replication in an ind	220 Bytes	2020-02-21	1	3	-
@dpavot	26683626	While control subjects with high PGC-1α expression exhibited high PV and Nefh expression, schizophrenia subjects with high PGC-1α expression did not, suggesting dissociation between PGC-1α expression	235 Bytes	2020-02-21	1	3	-
@dpavot	28145425	As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without sei	218 Bytes	2020-02-21	1	3	-
@dpavot	28663096	Our data suggest that mutations of the SRD5A2 gene are the main causes of posterior hypospadias and seem to affect the semen quality of adult patients, whereas mutations in AR and HSD17B3 gene were ra	233 Bytes	2020-02-21	1	3	-
@dpavot	28792508	Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.39%.	187 Bytes	2020-02-21	1	3	-
@dpavot	28944914	The present findings did not identify copy number variation and mutations in EDA; therefore, excluding the possibility of EDA‑initiated ectodermal dysplasia syndrome.	166 Bytes	2020-02-21	1	3	-