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ENCentral Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Alias:
Central Nervous System Calcification-Hearing Loss-Tubular Acidosis-Anemia Syndrome
Yoshimura-Takeshita Syndrome
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Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome, is also known as central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome. An important gene associated with Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome is KARS1 (Lysyl-TRNA Synthetase 1). Affiliated tissues include brain and spinal cord, and related phenotypes are seizure and hyperreflexia
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