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SMPX
small muscle protein X-linked
gene with protein product
OMIM: 300226
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Rare X-linked non-syndromic sensorineural deafness type DFN
ORPHA:90625
→
Disease-causing germline mutation(s) (gain of function) in
1
SMPX-related distal myopathy
ORPHA:700163
→
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Редкие заболевания
SMPX
🧬
SMPX
small muscle protein X-linked
gene with protein product
OMIM: 300226
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Rare X-linked non-syndromic sensorineural deafness type DFN
ORPHA:90625
→
Disease-causing germline mutation(s) (gain of function) in
1
SMPX-related distal myopathy
ORPHA:700163
→