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UNC80
unc-80 subunit of NALCN channel complex
gene with protein product
OMIM: 612636
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
ORPHA:700333
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Редкие заболевания
UNC80
🧬
UNC80
unc-80 subunit of NALCN channel complex
gene with protein product
OMIM: 612636
1 заболевание
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
ORPHA:700333
→