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Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
by
Savige, Judy
,
Huang, Mary
,
Croos Dabrera, Marina Shenelli
,
Shukla, Krushnam
,
Gibson, Joel
Published in
Frontiers in medicine
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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
by
Gibson, Joel T.
,
Huang, Mary
,
Shenelli Croos Dabrera, Marina
,
Shukla, Krushnam
,
Rothe, Hansjörg
,
Hilbert, Pascale
,
Deltas, Constantinos
,
Storey, Helen
,
Lipska-Ziętkiewicz, Beata S.
,
Chan, Melanie M. Y.
,
Sadeghi-Alavijeh, Omid
,
Gale, Daniel P.
,
Cerkauskaite, Agne
,
Savige, Judy
Published in
Scientific reports
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Alport Syndrome
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Amino Acid Substitution - Genetics
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Col4A3
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Collagen
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