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Documents (593) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	1380672	Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Pr	1.22 KB	2015-11-22	5	10	2025-01-16
PubMed	10594001	Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Alkaptonuria (AKU), the protot	641 Bytes	2015-11-15	8	8	2025-01-16
PubMed	8441467	Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Adreno	1.57 KB	2015-03-12	3	17	2025-01-16
PubMed	10090885	Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Autoimmu	1.73 KB	2015-11-02	7	10	2025-01-16
PubMed	10618304	Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. BACKGROUND:	1.75 KB	2015-11-15	8	8	2025-01-16
PubMed	10369876	Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant	1.39 KB	2015-11-18	8	7	2025-01-16
PubMed	2575483	Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large D	738 Bytes	2015-11-27	6	5	2025-01-16
PubMed	10607954	Knobloch syndrome involving midline scalp defect of the frontal region. We report on a 4-year-old bo	664 Bytes	2015-11-28	12	11	2025-01-16
PubMed	8326491	Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-J	1.04 KB	2015-11-27	5	6	2025-01-16
PubMed	7959767	The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to	983 Bytes	2015-11-27	5	4	2025-01-16