Počet záznamov: 1
haploinsuficiencia
SYS d057895 LBL 00000nx--j2200000---45-- 005 20240119200635.4 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a haploinsuficiencia $x DE $x GE $x IM $x PH $x RE $8 slo 300 1-
$a 2011 $8 eng 300 1-
$a Haplotypes (1994-2010) $8 eng 300 1-
$a Heterozygote (1996-2010) $8 eng 300 1-
$a Loss of Heterozygosity (1994-2010) $8 eng 300 1-
$a Mutation (1994-2010) $8 eng 330 1-
$a A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. $8 eng 686 $a G05.365.590.029.530.587 686 $a G05.380.350.500 750 $a Haploinsufficiency $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20110704 980 $x M
Počet záznamov: 1