Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.N1010S
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COL4A5

NM_033380.3:p.N1010S

Associated Papers

[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Yu C et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2020

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.

Geetha TS et al.

Human Mutation, 2014

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Shulman C et al.

Kidney Medicine, 0

33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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