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ABHD5
- Cerebral Creatine Deficiency
TNF
- Alopecia, Androgenetic, 1
- Valvular Heart Disease
- Septic Arthritis
- Hippocampal Sclerosis
- Hypopigmentation
- Harlequin Ichthyosis
- Polymyositis
- Familial Isolated Vitamin E Deficiency
- Renpenning's Syndrome
TTPA
- Familial Isolated Vitamin E Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
CTSD
- Harlequin Ichthyosis
- Cln10 Disease
ABCA12
- Harlequin Ichthyosis
PQBP1
- Renpenning's Syndrome
GDAP1
- Charcot-Marie-Tooth Disease Type 4a
IFIH1
- Valvular Heart Disease
- Singleton Merten Syndrome
- Polymyositis
CA5A
- Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
IL1B
- Alopecia, Androgenetic, 1
- Valvular Heart Disease
- Septic Arthritis
- Hippocampal Sclerosis
- Polymyositis
- Renpenning's Syndrome
RHOA
- Alopecia, Androgenetic, 1
- Hypopigmentation
HTR2B
- Valvular Heart Disease
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
CYP27B1
- Alopecia, Androgenetic, 1
- Tetany
- Polymyositis
EPG5
- Hypopigmentation
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
VDR
- Alopecia, Androgenetic, 1
- Alopecia, Congenital
ZFP36
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency