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SLC12A2
solute carrier family 12 member 2
gene with protein product
OMIM: 600840
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
ORPHA:633021
→
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633024
→
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SLC12A2
🧬
SLC12A2
solute carrier family 12 member 2
gene with protein product
OMIM: 600840
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
ORPHA:633021
→
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633024
→