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Robert Spegal
Robert Spegal
Genetics
Achromatopsia
Biology
Gene
Splice site mutation
4
Papers
265
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2024
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Empowerment through community building: Diabetes Today in the Pacific.
2003
Journal of Public Health Management and Practice
Kathryn L. Braun
Henry M Ichiho
Rie L. Kuhaulua
Nia Aitaoto
JoAnn U. Tsark
Robert Spegal
Betty M. Lamb
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Citations (20)
Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
2000
Human Molecular Genetics
Susanne Kohl
Britta Baumann
Martina Broghammer
Herbert Jägle
Paul A. Sieving
Ulrich Kellner
Robert Spegal
Mario Anastasi
Eberhart Zrenner
Lindsay T. Sharpe
Bernd Wissinger
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Citations (245)
Achromatopsia on chromosome 8q21 is caused by mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP gated channel
2000
Susanne Kohl
Britta Baumann
Martina Broghammer
Herbert Jaegle
Paul A. Sieving
Ulrich Kellner
Robert Spegal
Mario Anastasi
Eberhart Zrenner
Lindsay T. Sharpe
Bernd Wissinger
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