Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.Q640H
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COL5A2

NM_000393.5:p.Q640H

Associated Papers

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

Peng LT et al.

Journal of Clinical Laboratory Analysis, 2026

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