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CCN6
- Spondyloepiphyseal Dysplasia Congenita
- Arthropathy, Progressive Pseudorheumatoid, Of Childhood
- Fg Syndrome
ASL
- Argininosuccinic Aciduria
COL2A1
- Spondyloepiphyseal Dysplasia Congenita
- Arthropathy, Progressive Pseudorheumatoid, Of Childhood
TTPA
- Familial Isolated Vitamin E Deficiency
PMM2
- Pmm2 Deficiency
LIM2
- Cataract 19, Multiple Types
SLC12A6
- Andermann Syndrome
SLC4A11
- Corneal Dystrophy And Perceptive Deafness
PQBP1
- Renpenning's Syndrome
MED12
- Fg Syndrome
NGLY1
- Ngly1 Deficiency
UBE3B
- Kaufman Oculocerebrofacial Syndrome
LMNA
- Limb–girdle Muscular Dystrophy
TNF
- Hypoglycemia
- Asthma Attack
- Obstructive Lung Disease
- Familial Isolated Vitamin E Deficiency
- Renpenning's Syndrome
- Arthropathy, Progressive Pseudorheumatoid, Of Childhood
- Pulmonary Edema
FLNA
- Obstructive Lung Disease
- Fg Syndrome
- Intestinal Neuronal Dysplasia
LDHA
- Glycogen Storage Disease Xi
SGCG
- Limb–girdle Muscular Dystrophy
MYOT
- Limb–girdle Muscular Dystrophy
DES
- Limb–girdle Muscular Dystrophy
CAV3
- Limb–girdle Muscular Dystrophy