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Human Mutation 14
Showing records 1 to 14 | Display all abstracts in Human Mutation105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Chen ZX
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Burdon KP; Graham P
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Jia WN; Sun Y
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Hadler J; Hulleman JD
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Chen TH
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Pasutto F
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Zhao ZN
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Boese EA
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Lan LN
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Craig JE
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Liu Y; Song LH
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Fingert JH
Human Mutation 2022; 43: 2170-2186
105981 Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships
Jiang YX
Human Mutation 2022; 43: 2141-2152
105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Hewitt AW; Siggs OM; Whisenhunt K; Young TL; Mackey DA; Dubowsky A; Souzeau E
Human Mutation 2022; 43: 2170-2186
